Zusammenfassung
Das Kapitel befasst sich hauptsächlich mit den histologischen Veränderungen und der Pathogenese von zwei häufigen hereditären Lebererkrankungen, Morbus Wilson und hereditäre Hämochromatose. Zusätzlich wird eine Auswahl an metabolischen Lebererkrankungen abgehandelt, die mittels histologischer Routinemethoden diagnostizierbar sind. Den Text begleiten und ergänzen zahlreiche histologische Abbildungen und Tabellen. Besonderes Augenmerk richtet sich, neben der Beschreibung der Morphologie, auf klinisch-pathologische Korrelationen.
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Literatur
Abboud RT, Nelson TN, Jung B, Mattman A (2011) Alpha1-antitrypsin deficiency: a clinical-genetic overview. Appl Clin Genet 4:55–65
Abboud S, Haile DJ (2000) A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 275:19906–19912
Adam R, McMaster P, O’Grady JG, Castaing D, Klempnauer JL, Jamieson N, Neuhaus P, Lerut J, Salizzoni M, Pollard S, Muhlbacher F, Rogiers X, Garcia Valdecasas JC, Berenguer J, Jaeck D, Moreno Gonzalez E (2003) Evolution of liver transplantation in Europe: report of the European Liver Transplant Registry. Liver Transpl 9:1231–1243
Adams P, Brissot P, Powell LW (2000) EASL International Consensus Conference on Haemochromatosis. J Hepatol 33:485–504
Adams PC, Kertesz AE, Valberg LS (1991) Clinical presentation of hemochromatosis: a changing scene. Am J Med 90:445–449
Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P (2005) Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 352:1769–1778
Ajioka RS, Phillips JD, Weiss RB, Dunn DM, Smit MW, Proll SC, Katze MG, Kushner JP (2008) Down-regulation of hepcidin in porphyria cutanea tarda. Blood 112:4723–4728
Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson’s disease. Lancet 369:397–408
Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 358:221–230
Allerson CR, Cazzola M, Rouault TA (1999) Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. J Biol Chem 274:26439–26447
Alt ER, Sternlieb I, Goldfischer S (1990) The cytopathology of metal overload. Int Rev Exp Pathol 31:165–188
Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf DJ, Suchy FJ (2001) Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor. J Biol Chem 276:28857–28865
Andrews NC (2005) Molecular control of iron metabolism. Best Pract Res Clin Haematol 18:159–169
Andrews NC (1999) Disorders of iron metabolism. N Engl J Med 341:1986–1995
Andriopoulos B Jr., Corradini E, Xia Y, Faasse SA, Chen S, Grgurevic L, Knutson MD, Pietrangelo A, Vukicevic S, Lin HY, Babitt JL (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nat Genet 41:482–487
Angulo P, Keach JC, Batts KP, Lindor KD (1999) Independent predictors of liver fibrosis in patients with nonalcoholic steatohepatitis. Hepatology 30:1356–1362
Aoki CA, Rossaro L, Ramsamooj R, Brandhagen D, Burritt MF, Bowlus CL (2005) Liver hepcidin mRNA correlates with iron stores, but not inflammation, in patients with chronic hepatitis C. J Clin Gastroenterol 39:71–74
Asselta R, Duga S, Tenchini ML (2006) The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost 4:2115–2129
Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D’Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S (2015) Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen gamma-module. J Thromb Haemost 13:1459–1467
Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, Campagna JA, Chung RT, Schneyer AL, Woolf CJ, Andrews NC, Lin HY (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 38:531–539
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 54:328–343
Bacon BR, Sadiq SA (1997) Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 92:784–789
Bals R (2010) Alpha-1-antitrypsin deficiency. Best Pract Res Clin Gastroenterol 24:629–633
Balsells F, Wyllie R, Steffen R, Kay M (1997) Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. Clin Pediatr (Phila) 36:483–485
Bannayan GA, Dean WJ, Howell RR (1976) Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study. Am J Clin Pathol 66:702–709
Barron R, Grace ND, Sherwood G, Powell LW (1989) Iron overload complicating sideroblastic anemia – is the gene for hemochromatosis responsible? Gastroenterology 96:1204–1206
Barta SK, Yahalom J, Shia J, Hamlin PA (2006) Idiopathic cholestasis as a paraneoplastic phenomenon in Hodgkin’s lymphoma. Clin Lymphoma Myeloma 7:77–82
Bataller R, North KE, Brenner DA (2003) Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. Hepatology 37:493–503
Bearn AG (1960) A genetical analysis of thirty families with Wilson’s disease (hepatolenticular degeneration). Ann Hum Genet 24:33–43
Beaudet AL, Ferry GD, Nichols BL Jr., Rosenberg HS (1977) Cholesterol ester storage disease: clinical, biochemical, and pathological studies. J Pediatr 90:910–914
Beaumont C, Delaunay J, Hetet G, Grandchamp B, de Montalembert M, Tchernia G (2006) Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. Blood 107:4168–4170
Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, Bonneau D (1995) Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 11:444–446
Beegle RD, Brown LM, Weinstein DA (2015) Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep 18:23–32
Bekri S, Gual P, Anty R, Luciani N, Dahman M, Ramesh B, Iannelli A, Staccini-Myx A, Casanova D, Ben Amor I, Saint-Paul MC, Huet PM, Sadoul JL, Gugenheim J, Srai SK, Tran A, Le Marchand-Brustel Y (2006) Increased adipose tissue expression of hepcidin in severe obesity is independent from diabetes and NASH. Gastroenterology 131:788–796
Bernhard N, Bals R, Fahndrich S (2016) Alpha-1-antitrypsin deficiency – an update. Dtsch Med Wochenschr 141:1467–1469
Bernstein DL, Hulkova H, Bialer MG, Desnick RJ (2013) Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 58:1230–1243
Beuers U, Trauner M, Jansen P, Poupon R (2015) New paradigms in the treatment of hepatic cholestasis: from UDCA to FXR, PXR and beyond. J Hepatol 62:25–37
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T (2002) Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359:211–218
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF (2000) Molecular characterization of a case of atransferrinemia. Blood 96:4071–4074
Blackmore L, Knisely AS, Hartley JL, McKay K, Gissen P, Marcus R, Shawcross DL (2013) Polymorphisms in ABCB11 and ATP8B1 associated with development of severe intrahepatic cholestasis in Hodgkin’s lymphoma. J Clin Exp Hepatol 3:159–161
Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C (2009) Not all DMT1 mutations lead to iron overload. Blood Cells Mol Dis 43:199–201
Blanco I, Bueno P, Diego I, Perez-Holanda S, Casas-Maldonado F, Esquinas C, Miravitlles M (2017) Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis 12:561–569
Bonkovsky HL, Lambrecht RW, Shan Y (2003) Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol 30:137–144
Bonkovsky HL, Poh-Fitzpatrick M, Pimstone N, Obando J, Di Bisceglie A, Tattrie C, Tortorelli K, LeClair P, Mercurio MG, Lambrecht RW (1998) Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 27:1661–1669
Bonne-Tamir B, Frydman M, Agger MS, Bekeer R, Bowcock AM, Hebert JM, Cavalli-Sforza LL, Farrer LA (1990) Wilson’s disease in Israel: a genetic and epidemiological study. Ann Hum Genet 54:155–168
Bornemann A, Harzer K (2015) Lysosomal storage diseases: A brief summary. Pathologe 36:485–493
Bothwell TH, Abrahams C, Bradlow BA, Charlton RW (1965) Idiopathic and Bantu hemochromatosis. Comparative histological study. Arch Pathol 79:163–168
Bothwell TH, Abrahams C, Bradlow BA, Charlton RW (1965) Idiopathic and Bantu hemochromatosis. Comparative histological study. Arch Pathol 79:163–168
Bothwell TH, Bradlow BA (1960) Siderosis in the Bantu. A combined histopathological and chemical study. Arch Pathol 70:279–292
Bothwell TH, Hurtado AV, Donohue DM, Finch CA (1957) Erythrokinetics. IV. The plasma iron turnover as a measure of erythropoiesis. Blood 12:409–427
Bothwell TH, Isaacson C (1962) Siderosis in the Bantu. A comparison of incidence in males and females. Br Med J 1:522–524
Bothwell TH, Seftel H, Jacobs P, Torrance JD, Baumslag N (1964) Iron overload in Bantu subjects; studies on the availability of iron in Bantu beer. Am J Clin Nutr 14:47–51
Bottomley SS (1998) Secondary iron overload disorders. Semin Hematol 35:77–86
Bowden KL, Bilbey NJ, Bilawchuk LM, Boadu E, Sidhu R, Ory DS, Du H, Chan T, Francis GA (2011) Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. J Biol Chem 286:30624–30635
Bowlus CL, Willner I, Zern MA, Reuben A, Chen P, Holladay B, Xie L, Woolson RF, Strange C (2005) Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol 3:390–396
Bradbear RA, Bain C, Siskind V, Schofield FD, Webb S, Axelsen EM, Halliday JW, Bassett ML, Powell LW (1985) Cohort study of internal malignancy in genetic hemochromatosis and other chronic nonalcoholic liver diseases. J Natl Cancer Inst 75:81–84
Brewer GJ, Askari F (2000) Transplant livers in Wilson’s disease for hepatic, not neurologic, indications. Liver Transpl 6:662–664
Bridle K, Cheung TK, Murphy T, Walters M, Anderson G, Crawford DG, Fletcher LM (2006) Hepcidin is down-regulated in alcoholic liver injury: implications for the pathogenesis of alcoholic liver disease. Alcohol Clin Exp Res 30:106–112
Brissot P, Bourel M, Herry D, Verger JP, Messner M, Beaumont C, Regnouard F, Ferrand B, Simon M (1981) Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods. Gastroenterology 80:557–565
Britton RS (1996) Metal-induced hepatotoxicity. Semin Liver Dis 16:3–12
Brunt EM (2005) Pathology of hepatic iron overload. Semin Liver Dis 25:392–401
Buchino JJ, Brown BI, Volk DM (1983) Glycogen storage disease type IB. Arch Pathol Lab Med 107:283–285
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O’Connell NC, Setchell KD, Agostini RM Jr., Kocoshis SA, Reyes J, Knisely AS (1997) Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 26:155–164
Bull LN, Thompson RJ (2018) Progressive familial intrahepatic cholestasis. Clin Liver Dis 22:657–669
Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB (1998) A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 18:219–224
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327–337
Burda P, Hochuli M (2015) Hepatic glycogen storage disorders: what have we learned in recent years? Curr Opin Clin Nutr Metab Care 18:415–421
Büttner N, Spangenberg H (2011) Hereditäre Lebererkrankungen. Ther Umsch 68:201–206
Cadet E, Capron D, Perez AS, Crepin SN, Arlot S, Ducroix JP, Dautreaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJ, Rochette J (2003) A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 253:217–224
Cai SY, Gautam S, Nguyen T, Soroka CJ, Rahner C, Boyer JL (2009) ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 136:1060–1069
Cairns JE, Williams HP, Walshe JM (1969) “Sunflower cataract” in Wilson’s disease. Br Med J 3:95–96
Calderaro J, Labrune P, Morcrette G, Rebouissou S, Franco D, Prevot S, Quaglia A, Bedossa P, Libbrecht L, Terracciano L, Smit GP, Bioulac-Sage P, Zucman-Rossi J (2013) Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol 58:350–357
Camaschella C (2005) Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood 106:3710–3717
Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25:14–15
Camberlein E, Zanninelli G, Detivaud L, Lizzi AR, Sorrentino F, Vacquer S, Troadec MB, Angelucci E, Abgueguen E, Loreal O, Cianciulli P, Lai ME, Brissot P (2008) Anemia in beta-thalassemia patients targets hepatic hepcidin transcript levels independently of iron metabolism genes controlling hepcidin expression. Haematologica 93:111–115
Cappellini MD, Cohen A, Piga A, Bejaoui M, Perrotta S, Agaoglu L, Aydinok Y, Kattamis A, Kilinc Y, Porter J, Capra M, Galanello R, Fattoum S, Drelichman G, Magnano C, Verissimo M, Athanassiou-Metaxa M, Giardina P, Kourakli-Symeonidis A, Janka-Schaub G, Coates T, Vermylen C, Olivieri N, Thuret I, Opitz H, Ressayre-Djaffer C, Marks P, Alberti D (2006) A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 107:3455–3462
Cariello M, Piccinin E, Garcia-Irigoyen O, Sabba C, Moschetta A (2018) Nuclear receptor FXR, bile acids and liver damage: introducing the progressive familial intrahepatic cholestasis with FXR mutations. Biochim Biophys Acta Mol Basis Dis 1864:1308–1318
Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN (2003) Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet 34:91–96
Cazzola M, Barosi G, Gobbi PG, Invernizzi R, Riccardi A, Ascari E (1988) Natural history of idiopathic refractory sideroblastic anemia. Blood 71:305–312
Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, Stoel BC, Huang L, Yao Z, Edelman JM, McElvaney NG, RAPID Trial Study Group (2015) Intravenous augmentation treatment and lung density in severe alpha1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet 386:360–368
Chemmanur AT, Bonkovsky HL (2004) Hepatic porphyrias: diagnosis and management. Clin Liver Dis 8:807–838
Chen Y-T, Kishnani PS, Koeberl D (2013) Glycogen storage diseases. In: Beaudet AL, Vogelstein B, Kinzler KW (Hrsg) The online metabolic and molecular bases of inherited disease. McGraw-Hill, New York
Chen MA, Weinstein DA (2016) Glycogen storage diseases: diagnosis, treatment and outcome. Transl Sci Rare Dis 1:45–72
Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL (2004) Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 126:756–764
Chen F, Ellis E, Strom SC, Shneider BL (2010) ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes. Pediatr Res 67:183–187
Cheng PP, Jiao XY, Wang XH, Lin JH, Cai YM (2011) Hepcidin expression in anemia of chronic disease and concomitant iron-deficiency anemia. Clin Exp Med 11:33–42
Cheng Y, Zak O, Aisen P, Harrison SC, Walz T (2004) Structure of the human transferrin receptor-transferrin complex. Cell 116:565–576
Chiang JYL, Ferrell JM (2018) Bile acid metabolism in liver pathobiology. Gene Expr 18:71–87
Chou JY, Jun HS, Mansfield BC (2015) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis 38:511–519
Civallero G, De Mari J, Bittar C, Burin M, Giugliani R (2014) Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. Gene 539:154–156
Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969) Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 117:112–124
Conn HO, Strauss RH, Conn MB (1972) Estimation of hepatic hemosiderin by gross inspection of iron-stained histologic sections. Yale J Biol Med 45:133–138
Corradini E, Garuti C, Montosi G, Ventura P, Andriopoulos B Jr., Lin HY, Pietrangelo A, Babitt JL (2009) Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis. Gastroenterology 137:1489–1497
Corradini E, Pietrangelo A (2012) Iron and steatohepatitis. J Gastroenterol Hepatol 27(Suppl 2):42–46
Cortes JM, Oliva H, Paradinas FJ, Hernandez-Guio C (1980) The pathology of the liver in porphyria cutanea tarda. Histopathology 4:471–485
Cotler SJ, Bronner MP, Press RD, Carlson TH, Perkins JD, Emond MJ, Kowdley KV (1998) End-stage liver disease without hemochromatosis associated with elevated hepatic iron index. J Hepatol 29:257–262
Cox TM, Halsall DJ (2002) Hemochromatosis – neonatal and young subjects. Blood Cells Mol Dis 29:411–417
Cuijpers ML, Raymakers RA, Mackenzie MA, de Witte TJ, Swinkels DW (2010) Recent advances in the understanding of iron overload in sideroblastic myelodysplastic syndrome. Br J Haematol 149:322–333
Czlonkowska A, Tarnacka B, Litwin T, Gajda J, Rodo M (2005) Wilson’s disease-cause of mortality in 164 patients during 1992–2003 observation period. J Neurol 252:698–703
Dairaku T, Iwamoto T, Nishimura M, Endo M, Ohashi T, Eto Y (2014) A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. Mol Genet Metab 111:193–196
Datz C, Felder TK, Niederseer D, Aigner E (2013) Iron homeostasis in the metabolic syndrome. Eur J Clin Invest 43:215–224
Davies SE, Williams R, Portmann B (1989) Hepatic morphology and histochemistry of Wilson’s disease presenting as fulminant hepatic failure: a study of 11 cases. Histopathology 15:385–394
Davis MK, Weinstein DA (2008) Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant 12:137–145
Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E (2010) ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 51:1645–1655
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E (2010) The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 30:134–146
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E (2009) Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 4:1
De Domenico I, Ward DM, di Patti MC, Jeong SY, David S, Musci G, Kaplan J (2007) Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin. EMBO J 26:2823–2831
De Domenico I, Ward DM, Langelier C, Vaughn MB, Nemeth E, Sundquist WI, Ganz T, Musci G, Kaplan J (2007) The molecular mechanism of hepcidin-mediated ferroportin down-regulation. Mol Biol Cell 18:2569–2578
de Lima Toccafondo Vieira M, Tagliati CA (2014) Hepatobiliary transporters in drug-induced cholestasis: a perspective on the current identifying tools. Expert Opin Drug Metab Toxicol 10:581–597
de Serres FJ, Blanco I (2012) Prevalence of alpha1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. Ther Adv Respir Dis 6:277–295
de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M (1998) Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 95:282–287
Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS (2007) Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 46:492–498
Desai PK, Astrin KH, Thung SN, Gordon RE, Short MP, Coates PM, Desnick RJ (1987) Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet 26:689–698
Deugnier Y, Turlin B (2011) Pathology of hepatic iron overload. Semin Liver Dis 31:260–271
Deugnier Y, Turlin B, Ropert M, Cappellini MD, Porter JB, Giannone V, Zhang Y, Griffel L, Brissot P (2011) Improvement in liver pathology of patients with beta-thalassemia treated with deferasirox for at least 3 years. Gastroenterology 141:1202–1211
Deugnier YM, Charalambous P, Le Quilleuc D, Turlin B, Searle J, Brissot P, Powell LW, Halliday JW (1993) Preneoplastic significance of hepatic iron-free foci in genetic hemochromatosis: a study of 185 patients. Hepatology 18:1363–1369
Deugnier YM, Guyader D, Crantock L, Lopez JM, Turlin B, Yaouanq J, Jouanolle H, Campion JP, Launois B, Halliday JW (1993) Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. Gastroenterology 104:228–234
Deugnier YM, Loreal O, Turlin B, Guyader D, Jouanolle H, Moirand R, Jacquelinet C, Brissot P (1992) Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 102:2050–2059
Deugnier YM, Turlin B, Powell LW, Summers KM, Moirand R, Fletcher L, Loreal O, Brissot P, Halliday JW (1993) Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histological hepatic iron index: a study of 192 cases. Hepatology 17:30–34
Distante S, Robson KJ, Graham-Campbell J, Arnaiz-Villena A, Brissot P, Worwood M (2004) The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 115:269–279
Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, Kubitz R, Keitel V, Glantz A, Mattsson LA, Marschall HU, Molokhia M, Moore GE, Linton KJ, Williamson C (2009) Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 58:537–544
Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, Drejer A, Barut B, Zapata A, Law TC, Brugnara C, Lux SE, Pinkus GS, Pinkus JL, Kingsley PD, Palis J, Fleming MD, Andrews NC, Zon LI (2000) Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 403:776–781
Droge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Haussinger D, Keitel V (2017) Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. J Hepatol 67:1253–1264
Duane P, Raja KB, Simpson RJ, Peters TJ (1992) Intestinal iron absorption in chronic alcoholics. Alcohol Alcohol 27:539–544
Eaton JW, Qian M (2002) Molecular bases of cellular iron toxicity. Free Radic Biol Med 32:833–840
Egger NG, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE (2002) Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci 47:419–426
Eisenbach C, Gehrke SG, Stremmel W (2004) Iron, the HFE gene, and hepatitis C. Clin Liver Dis 8:775–785
Eisenbach C, Sieg O, Stremmel W, Encke J, Merle U (2007) Diagnostic criteria for acute liver failure due to Wilson disease. World J Gastroenterol 13:1711–1714
Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M, Petersen P, Schlichting P, Saermark T, Tybjaerg-Hansen A, Birgens H (2001) Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 358:1405–1409
Elliott PR, Stein PE, Bilton D, Carrell RW, Lomas DA (1996) Structural explanation for the deficiency of S alpha 1-antitrypsin. Nat Struct Biol 3:910–911
Enomoto K, Ishibashi H, Irie K, Okumura Y, Nomura H, Fukushima M, Inaba S, Niho Y (1989) Fulminant hepatic failure without evidence of cirrhosis in a case of Wilson’s disease. Jpn J Med 28:80–84
Epstein JH, Redeker AG (1968) Porphyria cutanea tarda. A study of the effect of phlebotomy. N Engl J Med 279:1301–1304
Eriksson S (1987) Alpha 1-antitrypsin deficiency and liver cirrhosis in adults. An analysis of 35 Swedish autopsied cases. Acta Med Scand 221:461–467
Erwin AL (2017) The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. Therap Adv Gastroenterol 10:553–562
Esnault VL, Testa A, Audrain M, Roge C, Hamidou M, Barrier JH, Sesboue R, Martin JP, Lesavre P (1993) Alpha 1-antitrypsin genetic polymorphism in ANCA-positive systemic vasculitis. Kidney Int 43:1329–1332
European Association for Study of Liver (2012) EASL clinical practice guidelines: Wilson’s disease. J Hepatol 56:671–685
European Association for the Study of the Liver (2010) EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 53:3–22
Facchini FS, Hua NW, Stoohs RA (2002) Effect of iron depletion in carbohydrate-intolerant patients with clinical evidence of nonalcoholic fatty liver disease. Gastroenterology 122:931–939
Falize L, Guillygomarc’h A, Perrin M, Laine F, Guyader D, Brissot P, Turlin B, Deugnier Y (2006) Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology 44:472–477
Fargion S, Fracanzani A (2003) Prevalence of hepatitis C virus infection in porphyria cutanea tarda. J Hepatol 39:635–638
Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S (2012) Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Mol Genet Metab 105:450–456
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr., Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399–408
Feldmann G, Groussard O, Fauvert R (1969) L’ultrastructure hepatique au cours de la maladie de Wilson [Hepatic ultrastructure in Wilson’s disease]. Biol Gastroenterol 2:137–160
Ferenci P (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 120:151–159
Ferenci P (2005) Wilson’s Disease. Clin Gastroenterol Hepatol 3:726–733
Ferenci P, Czlonkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W (2007) Late-onset Wilson’s disease. Gastroenterology 132:1294–1298
Ferlan-Marolt V, Stepec S (1999) Fulminant Wilsonian hepatitis unmasked by disease progression: report of a case and review of the literature. Dig Dis Sci 44:1054–1058
Fernandez-Real JM, Lopez-Bermejo A, Ricart W (2002) Cross-talk between iron metabolism and diabetes. Diabetes 51:2348–2354
Field LS, Luk E, Culotta VC (2002) Copper chaperones: personal escorts for metal ions. J Bioenerg Biomembr 34:373–379
Fillet G, Beguin Y, Baldelli L (1989) Model of reticuloendothelial iron metabolism in humans: abnormal behavior in idiopathic hemochromatosis and in inflammation. Blood 74:844–851
Finch C (1994) Regulators of iron balance in humans. Blood 84:1697–1702
Fleming CR, Dickson ER, Wahner HW, Hollenhorst RW, McCall JT (1977) Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 86:285–288
Fleming RE, Ahmann JR, Migas MC, Waheed A, Koeffler HP, Kawabata H, Britton RS, Bacon BR, Sly WS (2002) Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci U S A 99:10653–10658
Fleming RE, Britton RS, Waheed A, Sly WS, Bacon BR (2004) Pathogenesis of hereditary hemochromatosis. Clin Liver Dis 8:755–773
Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH (2002) Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 122:281–289
Fotoulaki M, Giza S, Jirsa M, Grammatikopoulos T, Miquel R, Hytiroglou P, Tsitouridis I, Knisely AS (2019) Beyond an obvious cause of cholestasis in a toddler: compound heterozygosity for ABCB11 mutations. Pediatrics 143:e20182146
Fouchier SW, Defesche JC (2013) Lysosomal acid lipase A and the hypercholesterolaemic phenotype. Curr Opin Lipidol 24:332–338
Fracanzani AL, Conte D, Fraquelli M, Taioli E, Mattioli M, Losco A, Fargion S (2001) Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease. Hepatology 33:647–651
Fracanzani AL, Fargion S, Romano R, Conte D, Piperno A, D’Alba R, Mandelli C, Fraquelli M, Pacchetti S, Braga M (1995) Portal hypertension and iron depletion in patients with genetic hemochromatosis. Hepatology 22:1127–1131
Francavilla R, Castellaneta SP, Hadzic N, Chambers SM, Portmann B, Tung J, Cheeseman P, Rela M, Heaton ND, Mieli-Vergani G (2000) Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol 32:986–992
Frankenberg T, Miloh T, Chen FY, Ananthanarayanan M, Sun AQ, Balasubramaniyan N, Arias I, Setchell KD, Suchy FJ, Shneider BL (2008) The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology 48:1896–1905
Friedman BM, Baynes RD, Bothwell TH, Gordeuk VR, Macfarlane BJ, Lamparelli RD, Robinson EJ, Sher R, Hamberg S (1990) Dietary iron overload in southern African rural blacks. S Afr Med J 78:301–305
Frommer D, Morris J, Sherlock S, Abrams J, Newman S (1977) Kayser-Fleischer-like rings in patients without Wilson’s disease. Gastroenterology 72:1331–1335
Frydman M (1990) Genetic aspects of Wilson’s disease. J Gastroenterol Hepatol 5:483–490
Fujita N, Sugimoto R, Takeo M, Urawa N, Mifuji R, Tanaka H, Kobayashi Y, Iwasa M, Watanabe S, Adachi Y, Kaito M (2007) Hepcidin expression in the liver: relatively low level in patients with chronic hepatitis C. Mol Med 13:97–104
Gaetke LM, Chow CK (2003) Copper toxicity, oxidative stress, and antioxidant nutrients. Toxicology 189:147–163
Gasche C, Aslanidis C, Kain R, Exner M, Helbich T, Dejaco C, Schmitz G, Ferenci P (1997) A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. J Hepatol 27:744–750
Gerloff T, Stieger B, Hagenbuch B, Madon J, Landmann L, Roth J, Hofmann AF, Meier PJ (1998) The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 273:10046–10050
Ginsberg HN, Le NA, Short MP, Ramakrishnan R, Desnick RJ (1987) Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest 80:1692–1697
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D (2014) MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology 60:301–310
Gitlin JD (2003) Wilson disease. Gastroenterology 125:1868–1877
Goldfischer S, Popper H, Sternlieb I (1980) The significance of variations in the distribution of copper in liver disease. Am J Pathol 99:715–730
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD (2016) Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7:10713
Gonzales E, Taylor SA, Davit-Spraul A, Thebaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E (2017) MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology 65:164–173
Gordeuk VR (2002) African iron overload. Semin Hematol 39:263–269
Gordeuk VR, Boyd RD, Brittenham GM (1986) Dietary iron overload persists in rural sub-Saharan Africa. Lancet 1:1310–1313
Goswami T, Andrews NC (2006) Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 281:28494–28498
Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB (2000) Diagnosis of Wilson’s disease: an experience over three decades. Gut 46:415–419
Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R (2009) Pathological evidence of Wolman’s disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 44:449–450
Grammatikopoulos T, Knisely AS, Dhawan A, Hadzic N, Thompson RJ (2015) Anti-CD20 monoclonal antibody therapy in functional bile salt export pump deficiency after liver transplantation. J Pediatr Gastroenterol Nutr 60:e50–3
Greene CM, Marciniak SJ, Teckman J, Ferrarotti I, Brantly ML, Lomas DA, Stoller JK, McElvaney NG (2016) α1-Antitrypsin deficiency. Nat Rev Dis Primers 2:16051
Groen A, Romero MR, Kunne C, Hoosdally SJ, Dixon PH, Wooding C, Williamson C, Seppen J, Van den Oever K, Mok KS, Paulusma CC, Linton KJ, Oude Elferink RP (2011) Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity. Gastroenterology 141(4):1927–1937.e4
Grosse B, Cassio D, Yousef N, Bernardo C, Jacquemin E, Gonzales E (2012) Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology 55:1249–1259
Guarino M, Stracciari A, D’Alessandro R, Pazzaglia P (1995) No neurological improvement after liver transplantation for Wilson’s disease. Acta Neurol Scand 92:405–408
Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, Boron WF, Nussberger S, Gollan JL, Hediger MA (1997) Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388:482–488
Haber F, Weiss J (1932) Über die Katalyse des Hydroxyperoxydes. Naturwissenschaften 20:948–950
Hadchouel M, Gautier M (1976) Histopathologic study of the liver in the early cholestatic phase of alpha-1-antitrypsin deficiency. J Pediatr 89:211–215
Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A (2004) Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 127:1386–1390
Hagar W, Theil EC, Vichinsky EP (2002) Diseases of iron metabolism. Pediatr Clin North Am 49:893–909
Hamlyn AN, Gollan JL, Douglas AP, Sherlock S (1977) Fulminant Wilson’s disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. Br Med J 2:660–663
Harris ZL, Durley AP, Man TK, Gitlin JD (1999) Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. Proc Natl Acad Sci U S A 96:10812–10817
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 92:2539–2543
Harrison-Findik DD, Klein E, Crist C, Evans J, Timchenko N, Gollan J (2007) Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology 46:1979–1985
Harrison-Findik DD, Schafer D, Klein E, Timchenko NA, Kulaksiz H, Clemens D, Fein E, Andriopoulos B, Pantopoulos K, Gollan J (2006) Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression. J Biol Chem 281:22974–22982
Hayashi H, Takada T, Suzuki H, Akita H, Sugiyama Y (2005) Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. Hepatology 41:916–924
Hayashi H, Yano M, Fujita Y, Wakusawa S (2006) Compound overload of copper and iron in patients with Wilson’s disease. Med Mol Morphol 39:121–126
Heeney MM, Andrews NC (2004) Iron homeostasis and inherited iron overload disorders: an overview. Hematol Oncol Clin North Am 18:1379–1403
Heilmeyer L, Keller W, Vivell O, Keiderling W, Betke K, Woehler F, Schultze HE (1961) Congenital atransferrinemia in a 7-year-old girl. Dtsch Med Wochenschr 86:1745–1751
Hernandez S, Tsuchiya Y, Garcia-Ruiz JP, Lalioti V, Nielsen S, Cassio D, Sandoval IV (2008) ATP7B copper-regulated traffic and association with the tight junctions: copper excretion into the bile. Gastroenterology 134:1215–1223
Holtzman NA, Gaumnitz BM (1970) Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma. J Biol Chem 245:2354–2358
Holzgreve H (2011) Hereditary hyperferritinemia cataract syndrome. Dtsch Med Wochenschr 136:1895–1898
Huang L, Zhao A, Lew JL, Zhang T, Hrywna Y, Thompson JR, de Pedro N, Royo I, Blevins RA, Pelaez F, Wright SD, Cui J (2003) Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem 278:51085–51090
Huster D (2010) Wilson disease. Best Pract Res Clin Gastroenterol 24:531–539
Iezzoni JC, Gaffey MJ, Stacy EK, Normansell DE (1997) Hepatocytic globules in end-stage hepatic disease: relationship to alpha1-antitrypsin phenotype. Am J Clin Pathol 107:692–697
Imbert-Bismut F, Charlotte F, Turlin B, Khalil L, Piton A, Brissot P, Le Charpentier Y, Delattre J, Opolon P, Deugnier Y, Poynard T (1999) Low hepatic iron concentration: evaluation of two complementary methods, colorimetric assay and iron histological scoring. J Clin Pathol 52:430–434
Ireland RM (2017) Morphology of Wolman cholesteryl ester storage disease. Blood 129:803
Irons RD, Schenk EA, Lee JC (1977) Cytochemical methods for copper. Semiquantitative screening procedure for identification of abnormal copper levels in liver. Arch Pathol Lab Med 101:298–301
Itoh S, Ishida Y, Matsuo S (1987) Mallory bodies in a patient with type Ia glycogen storage disease. Gastroenterology 92:520–523
Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Elferink RP (2001) The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 120:1448–1458
Jaffe R (1998) Liver transplant pathology in pediatric metabolic disorders. Pediatr Dev Pathol 1:102–117
Jain S, Scheuer PJ, Archer B, Newman SP, Sherlock S (1978) Histological demonstration of copper and copper-associated protein in chronic liver diseases. J Clin Pathol 31:784–790
Jakobovits AW, Morgan MY, Sherlock S (1979) Hepatic siderosis in alcoholics. Dig Dis Sci 24:305–310
Jalil S, Grady JJ, Lee C, Anderson KE (2010) Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol 8:297–302
Jara P, Hierro L, Martinez-Fernandez P, Alvarez-Doforno R, Yanez F, Diaz MC, Camarena C, De la Vega A, Frauca E, Munoz-Bartolo G, Lopez-Santamaria M, Larrauri J, Alvarez L (2009) Recurrence of bile salt export pump deficiency after liver transplantation. N Engl J Med 361:1359–1367
Johncilla M, Mitchell KA (2011) Pathology of the liver in copper overload. Semin Liver Dis 31:239–244
Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, Cederbaum S, Chan A, Dhawan A, Di Rocco M, Domm J, Enns GM, Finegold D, Gargus JJ, Guardamagna O, Hendriksz C, Mahmoud IG, Raiman J, Selim LA, Whitley CB, Zaki O, Quinn AG (2016) Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med 18:452–458
Kaji K, Nakanuma Y, Sasaki M, Unoura M, Kobayashi K, Nonomura A (1995) Hemosiderin deposition in portal endothelial cells: a novel hepatic hemosiderosis frequent in chronic viral hepatitis B and C. Hum Pathol 26:1080–1085
Kakizaki S, Takagi H, Horiguchi N, Toyoda M, Takayama H, Nagamine T, Mori M, Kato N (2000) Iron enhances hepatitis C virus replication in cultured human hepatocytes. Liver 20:125–128
Kanungo S, Wells K, Tribett T, El-Gharbawy A (2018) Glycogen metabolism and glycogen storage disorders. Ann Transl Med 6:474
Kassam N, Witt N, Kneteman N, Bain VG (1998) Liver transplantation for neuropsychiatric Wilson disease. Can J Gastroenterol 12:65–68
Kato J, Kobune M, Nakamura T, Kuroiwa G, Takada K, Takimoto R, Sato Y, Fujikawa K, Takahashi M, Takayama T, Ikeda T, Niitsu Y (2001) Normalization of elevated hepatic 8-hydroxy-2′-deoxyguanosine levels in chronic hepatitis C patients by phlebotomy and low iron diet. Cancer Res 61:8697–8702
Keitel V, Burdelski M, Vojnisek Z, Schmitt L, Haussinger D, Kubitz R (2009) De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology 50:510–517
Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, Kelly DA, Mieli-Vergani G, Cox TM (2001) Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 38:599–610
Kelly EE, Horgan CP, McCaffrey MW (2012) Rab11 proteins in health and disease. Biochem Soc Trans 40:1360–1367
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12:446–463
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabon-Pena C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN (2004) Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 40:27–38
Knisely AS, Gelbart T, Beutler E (2004) Molecular characterization of a third case of human atransferrinemia. Blood 104:2607
Knisely AS, Mieli-Vergani G, Whitington PF (2003) Neonatal hemochromatosis. Gastroenterol Clin North Am 32:877–889
Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikci B, Ozcay F, Laszlo A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Nemeth A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melin-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ (2006) Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 44:478–486
Kono S, Suzuki H, Takahashi K, Takahashi Y, Shirakawa K, Murakawa Y, Yamaguchi S, Miyajima H (2006) Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. Gastroenterology 131:240–245
Kostner GM, Hadorn B, Roscher A, Zechner R (1985) Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease. J Inherit Metab Dis 8:9–12
Kowdley KV (2004) Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology 127:S79–S86
Krawczyk M, Grunhage F, Langhirt M, Bohle RM, Lammert F (2012) Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters. Ann Hepatol 11:710–714
Krivit W, Freese D, Chan KW, Kulkarni R (1992) Wolman’s disease: a review of treatment with bone marrow transplantation and considerations for the future. Bone Marrow Transplant 10(1):97–101
Kubitz R, Droge C, Kluge S, Stross C, Walter N, Keitel V, Haussinger D, Stindt J (2015) Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis. Clin Rev Allergy Immunol 48:273–284
Kuo YM, Zhou B, Cosco D, Gitschier J (2001) The copper transporter CTR1 provides an essential function in mammalian embryonic development. Proc Natl Acad Sci U S A 98:6836–6841
Lackner C, Knisely AS (2017) Liver biopsy in children and adolescents: preliminary morphological examinations in diffuse liver disease. Pathologe 38:272–277
Lambrecht RW, Bonkovsky HL (2002) Hemochromatosis and porphyria. Semin Gastrointest Dis 13:109–119
Lam-Yuk-Tseung S, Camaschella C, Iolascon A, Gros P (2006) A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. Blood Cells Mol Dis 36:347–354
Langner C, Denk H (2004) Wilson disease. Virchows Arch 445:111–118
Laurell CB, Eriksson S (1963) The electrophoretic a-1-globulin pattern of serum in a-1-antitrypsin deficiency. Scand J Clin Lab Invest 15:132–140
Le Lan C, Mosser A, Ropert M, Detivaud L, Loustaud-Ratti V, Vital-Durand D, Roget L, Bardou-Jacquet E, Turlin B, David V, Loreal O, Deugnier Y, Brissot P, Jouanolle AM (2011) Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 140:1199–1207
Lee J, Prohaska JR, Thiele DJ (2001) Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development. Proc Natl Acad Sci U S A 98:6842–6847
Lee P, Peng H, Gelbart T, Wang L, Beutler E (2005) Regulation of hepcidin transcription by interleukin-1 and interleukin-6. Proc Natl Acad Sci U S A 102:1906–1910
Lefkowitch JH, Honig CL, King ME, Hagstrom JW (1982) Hepatic copper overload and features of Indian childhood cirrhosis in an American sibship. N Engl J Med 307:271–277
Levene AP, Goldin RD (2010) Physiological hepatic nuclear vacuolation – how long does it persist? Histopathology 56:426–429
Lin M, Rippe RA, Niemela O, Brittenham G, Tsukamoto H (1997) Role of iron in NF-kappa B activation and cytokine gene expression by rat hepatic macrophages. Am J Physiol 272:G1355–G1364
Linarelli LG, Williams CN, Phillips MJ (1972) Byler’s disease: fatal intrahepatic cholestasis. J Pediatr 81:484–492
Linder MC, Wooten L, Cerveza P, Cotton S, Shulze R, Lomeli N (1998) Copper transport. Am J Clin Nutr 67:965S–971S
Lindquist RR (1969) Studies on the pathogenesis of hepatolenticular degeneration. II. Cytochemical methods for the localization of copper. Arch Pathol 87:370–379
Litwin T, Gromadzka G, Czlonkowska A (2008) Neurological presentation of Wilson’s disease in a patient after liver transplantation. Mov Disord 23:743–746
Lok CY, Merryweather-Clarke AT, Viprakasit V, Chinthammitr Y, Srichairatanakool S, Limwongse C, Oleesky D, Robins AJ, Hudson J, Wai P, Premawardhena A, de Silva HJ, Dassanayake A, McKeown C, Jackson M, Gama R, Khan N, Newman W, Banait G, Chilton A, Wilson-Morkeh I, Weatherall DJ, Robson KJ (2009) Iron overload in the Asian community. Blood 114:20–25
Lomas DA, Evans DL, Finch JT, Carrell RW (1992) The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 357:605–607
Lomas DA, Mahadeva R (2002) Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 110:1585–1590
Longo F, Zecchina G, Sbaiz L, Fischer R, Piga A, Camaschella C (1999) The influence of hemochromatosis mutations on iron overload of thalassemia major. Haematologica 84:799–803
Ludwig J, Hashimoto E, Porayko MK, Moyer TP, Baldus WP (1997) Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology 112:882–888
Ludwig J, Moyer TP, Rakela J (1994) The liver biopsy diagnosis of Wilson’s disease. Methods in pathology. Am J Clin Pathol 102:443–446
Lutsenko S, LeShane ES, Shinde U (2007) Biochemical basis of regulation of human copper-transporting ATPases. Arch Biochem Biophys 463:134–148
MacPhail AP, Mandishona EM, Bloom PD, Paterson AC, Rouault TA, Gordeuk VR (1999) Measurements of iron status and survival in African iron overload. S Afr Med J 89:966–972
Mahadeva R, Chang WS, Dafforn TR, Oakley DJ, Foreman RC, Calvin J, Wight DG, Lomas DA (1999) Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest 103:999–1006
Maier-Dobersberger T, Ferenci P, Polli C, Balac P, Dienes HP, Kaserer K, Datz C, Vogel W, Gangl A (1997) Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med 127:21–26
Makishima M, Okamoto AY, Repa JJ, Tu H, Learned RM, Luk A, Hull MV, Lustig KD, Mangelsdorf DJ, Shan B (1999) Identification of a nuclear receptor for bile acids. Science 284:1362–1365
Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC (2001) The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 34:776–784
Mandishona E, MacPhail AP, Gordeuk VR, Kedda MA, Paterson AC, Rouault TA, Kew MC (1998) Dietary iron overload as a risk factor for hepatocellular carcinoma in Black Africans. Hepatology 27:1563–1566
Marshall WC, Ockenden BG, Fosbrooke AS, Cumings JN (1969) Wolman’s disease. A rare lipidosis with adrenal calcification. Arch Dis Child 44:331–341
Martinez-Fernandez P, Hierro L, Jara P, Alvarez L (2009) Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. Am J Physiol Gastrointest Liver Physiol 296:G1119–G1129
Martins R, Picanco I, Fonseca A, Ferreira L, Rodrigues O, Coelho M, Seixas T, Miranda A, Nunes B, Costa L, Romao L, Faustino P (2004) The role of HFE mutations on iron metabolism in beta-thalassemia carriers. J Hum Genet 49:651–655
Mauad TH, van Nieuwkerk CM, Dingemans KP, Smit JJ, Schinkel AH, Notenboom RG, van den Bergh Weerman MA, Verkruisen RP, Groen AK, Oude Elferink RP (1994) Mice with homozygous disruption of the mdr2 P-glycoprotein gene. A novel animal model for studies of nonsuppurative inflammatory cholangitis and hepatocarcinogenesis. Am J Pathol 145:1237–1245
McCarthy C, Reeves EP, McElvaney NG (2016) The role of neutrophils in alpha-1 antitrypsin deficiency. Ann Am Thorac Soc 13(Suppl 4):S297–S304
McCullough AJ, Fleming CR, Thistle JL, Baldus WP, Ludwig J, McCall JT, Dickson ER (1983) Diagnosis of Wilson’s disease presenting as fulminant hepatic failure. Gastroenterology 84:161–167
McKie AT, Latunde-Dada GO, Miret S, McGregor JA, Anderson GJ, Vulpe CD, Wrigglesworth JM, Simpson RJ (2002) Molecular evidence for the role of a ferric reductase in iron transport. Biochem Soc Trans 30:722–724
McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, Miret S, Bomford A, Peters TJ, Farzaneh F, Hediger MA, Hentze MW, Simpson RJ (2000) A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 5:299–309
McNamara L, MacPhail AP, Gordeuk VR, Hasstedt SJ, Rouault T (1998) Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? Br J Haematol 102:1176–1178
Mendler MH, Turlin B, Moirand R, Jouanolle AM, Sapey T, Guyader D, Le Gall JY, Brissot P, David V, Deugnier Y (1999) Insulin resistance-associated hepatic iron overload. Gastroenterology 117:1155–1163
Merle U, Schaefer M, Ferenci P, Stremmel W (2007) Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut 56:115–120
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ (1997) Global prevalence of putative haemochromatosis mutations. J Med Genet 34:275–278
Milder MS, Cook JD, Stray S, Finch CA (1980) Idiopathic hemochromatosis, an interim report. Med (baltimore) 59:34–49
Milkiewicz P, Saksena S, Hubscher SG, Elias E (2000) Wilson’s disease with superimposed autoimmune features: report of two cases and review. J Gastroenterol Hepatol 15:570–574
Milman N, Pedersen P, á Steig T, Byg KE, Graudal N, Fenger K (2001) Clinically overt hereditary hemochromatosis in Denmark 1948–1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol 80:737–744
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT (2005) Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105:1337–1342
Miura K, Taura K, Kodama Y, Schnabl B, Brenner DA (2008) Hepatitis C virus-induced oxidative stress suppresses hepcidin expression through increased histone deacetylase activity. Hepatology 48:1420–1429
Moirand R, Mortaji AM, Loreal O, Paillard F, Brissot P, Deugnier Y (1997) A new syndrome of liver iron overload with normal transferrin saturation. Lancet 349:95–97
Morcos M, Dubois S, Bralet MP, Belghiti J, Degott C, Terris B (2001) Primary liver carcinoma in genetic hemochromatosis reveals a broad histologic spectrum. Am J Clin Pathol 116:738–743
Morotti RA, Jain D (2013) Pediatric cholestatic disorders: approach to pathologic diagnosis. Surg Pathol Clin 6:205–225
Moyo VM, Gangaidzo IT, Gomo ZA, Khumalo H, Saungweme T, Kiire CF, Rouault T, Gordeuk VR (1997) Traditional beer consumption and the iron status of spouse pairs from a rural community in Zimbabwe. Blood 89:2159–2166
Muller T, Feichtinger H, Berger H, Muller W (1996) Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 347:877–880
Munoz M, Garcia-Erce JA, Remacha AF (2011) Disorders of iron metabolism. Part 1: molecular basis of iron homoeostasis. J Clin Pathol 64:281–286
Munoz M, Villar I, Garcia-Erce JA (2009) An update on iron physiology. World J Gastroenterol 15:4617–4626
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995) Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Hum Genet 95:491–494
Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013) Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. Nutr Metab Cardiovasc Dis 23:732–736
Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Seedorf U, Schulte H, Berger K, Funke H, Assmann G (2007) Prevalence of cholesteryl ester storage disease. Arterioscler Thromb Vasc Biol 27:1866–1868
Nagasaka H, Yorifuji T, Kosugiyama K, Egawa H, Kawai M, Murayama K, Hasegawa M, Sumazaki R, Tsubaki J, Kikuta H, Matsui A, Tanaka K, Matsuura N, Kobayashi K (2004) Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone. J Pediatr Gastroenterol Nutr 39:404–409
Nebbia G, Hadchouel M, Odievre M, Alagille D (1983) Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. J Pediatr 102:661–665
Nelson DR, Teckman J, Di Bisceglie AM, Brenner DA (2012) Diagnosis and management of patients with alpha1-antitrypsin (A1AT) deficiency. Clin Gastroenterol Hepatol 10:575–580
Nelson JE, Wilson L, Brunt EM, Yeh MM, Kleiner DE, Unalp-Arida A, Kowdley KV (2011) Relationship between the pattern of hepatic iron deposition and histological severity in nonalcoholic fatty liver disease. Hepatology 53:448–457
Nemeth E, Preza GC, Jung CL, Kaplan J, Waring AJ, Ganz T (2006) The N-terminus of hepcidin is essential for its interaction with ferroportin: structure-function study. Blood 107:328–333
Nemeth E, Rivera S, Gabayan V, Keller C, Taudorf S, Pedersen BK, Ganz T (2004) IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. J Clin Invest 113:1271–1276
Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, Ganz T, Kaplan J (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306:2090–2093
Nemeth E, Valore EV, Territo M, Schiller G, Lichtenstein A, Ganz T (2003) Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 101:2461–2463
Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G (1996) Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110:1107–1119
Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 313:1256–1262
Oude Elferink RP, Ottenhoff R, van Wijland M, Smit JJ, Schinkel AH, Groen AK (1995) Regulation of biliary lipid secretion by mdr2 P-glycoprotein in the mouse. J Clin Invest 95:31–38
Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal EM (2011) Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency. J Pediatr Gastroenterol Nutr 53:350–354
Pan X, Kelly S, Melin-Aldana H, Malladi P, Whitington PF (2010) Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology 51:2061–2068
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36:77–82
Park CH, Valore EV, Waring AJ, Ganz T (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 276:7806–7810
Parks DJ, Blanchard SG, Bledsoe RK, Chandra G, Consler TG, Kliewer SA, Stimmel JB, Willson TM, Zavacki AM, Moore DD, Lehmann JM (1999) Bile acids: natural ligands for an orphan nuclear receptor. Science 284:1365–1368
Partin JC, Schubert WK (1969) Small intestinal mucosa in cholesterol ester storage disease. A light and electron microscope study. Gastroenterology 57:542–558
Patel D, Teckman JH (2018) Alpha-1-Antitrypsin deficiency liver disease. Clin Liver Dis 22:643–655
Paterson A, MacPhail A, Gordeuk V (1999) African iron overload revisited: histology in relation to measurements of iron status (abstract). Hepatology 30(Suppl):382A
Paulusma CC, de Waart DR, Kunne C, Mok KS, Elferink RP (2009) Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem 284:9947–9954
Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP (2006) Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology 44:195–204
Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB (2004) A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 13:881–892
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN (2010) Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol 53:170–178
Pericleous M, Kelly C, Wang T, Livingstone C, Ala A (2017) Wolman’s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol 2:670–679
Perlmutter DH (2004) Alpha-1-antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis 8:839–859
Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BC (2007) Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review. Hepatology 45:1313–1323
Peto TE, Pippard MJ, Weatherall DJ (1983) Iron overload in mild sideroblastic anaemias. Lancet 1:375–378
Phillips MJ, Poucell S, Patterson J, Valencia P (1987) The liver. An atlas and text of ultrastructural pathology. Raven Press, New York
Pietrangelo A (2011) Hepcidin in human iron disorders: therapeutic implications. J Hepatol 54:173–181
Pietrangelo A (2010) Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 139:393–408
Pietrangelo A (2009) Iron in NASH, chronic liver diseases and HCC: how much iron is too much? J Hepatol 50:249–251
Pietrangelo A (2005) Non-HFE hemochromatosis. Semin Liver Dis 25:450–460
Pietrangelo A (2004) The ferroportin disease. Blood Cells Mol Dis 32:131–138
Pietrangelo A (2003) Iron-induced oxidant stress in alcoholic liver fibrogenesis. Alcohol 30:121–129
Pietrangelo A (1996) Metals, oxidative stress, and hepatic fibrogenesis. Semin Liver Dis 16:13–30
Pietrangelo A, Caleffi A, Corradini E (2011) Non-HFE hepatic iron overload. Semin Liver Dis 31:302–318
Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 276:7811–7819
Piperno A, Arosio C, Fossati L, Vigano M, Trombini P, Vergani A, Mancia G (2000) Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. Gastroenterology 119:441–445
Porto AF (2014) Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and cholesteryl ester storage diseases. Pediatr Endocrinol Rev 12(1):125–132
Powell LW, Dixon JL, Ramm GA, Purdie DM, Lincoln DJ, Anderson GJ, Subramaniam VN, Hewett DG, Searle JW, Fletcher LM, Crawford DH, Rodgers H, Allen KJ, Cavanaugh JA, Bassett ML (2006) Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 166:294–301
Puy H, Gouya L, Deybach JC (2010) Porphyrias. Lancet 375:924–937
Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, Lu Y, Li LT, Zhang MH, Sheps JA, Wang NL, Yan YY, Li JQ, Chen L, Borchers CH, Sipos B, Knisely AS, Ling V, Xing QH, Wang JS (2017) Defects in myosin VB are associated with a spectrum of previously undiagnosed low gamma-glutamyltransferase cholestasis. Hepatology 65:1655–1669
Quigley JG, Yang Z, Worthington MT, Phillips JD, Sabo KM, Sabath DE, Berg CL, Sassa S, Wood BL, Abkowitz JL (2004) Identification of a human heme exporter that is essential for erythropoiesis. Cell 118:757–766
Rand EB, Karpen SJ, Kelly S, Mack CL, Malatack JJ, Sokol RJ, Whitington PF (2009) Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. J Pediatr 155:566–571
Rector WG Jr., Uchida T, Kanel GC, Redeker AG, Reynolds TB (1984) Fulminant hepatic and renal failure complicating Wilson’s disease. Liver 4:341–347
Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Coric M, Calandra S, Hamilton J, Eagleton T, Ros E (2014) Lysosomal acid lipase deficiency – an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 235:21–30
Riede UN, Spycher MA, Gitzelmann R (1980) Glycogenosis type I (glucose 6-phosphatase deficiency): I. Ultrastructural morphometric analysis of juvenile liver cells. Pathol Res Pract 167:136–150
Riva A, Mariani R, Bovo G, Pelucchi S, Arosio C, Salvioni A, Vergani A, Piperno A (2004) Type 3 hemochromatosis and beta-thalassemia trait. Eur J Haematol 72:370–374
Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349:321–323
Roberts EA, Cox DW (1998) Wilson disease. Baillieres Clin Gastroenterol 12:237–256
Roberts EA, Schilsky ML (2008) Diagnosis and treatment of Wilson disease: an update. Hepatology 47:2089–2111
Roche-Sicot J, Benhamou JP (1977) Acute intravascular hemolysis and acute liver failure associated as a first manifestation of Wilson’s disease. Ann Intern Med 86:301–303
Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33:21–22
Rosmorduc O, Hermelin B, Poupon R (2001) MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 120:1459–1467
Rosmorduc O, Poupon R (2007) Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis 2:29
Rosmorduc O, Wendum D, Arrive L, Elnaggar A, Ennibi K, Hannoun L, Charlotte F, Grange JD, Poupon R (2008) Phenotypic expression of ferroportin disease in a family with the N144H mutation. Gastroenterol Clin Biol 32:321–327
Rowe JW, Wands JR, Mezey E, Waterbury LA, Wright JR, Tobin J, Andres R (1977) Familial hemochromatosis: characteristics of the precirrhotic stage in a large kindred. Medicine (Baltimore) 56:197–211
Roytta M, Fagerlund AS, Toikkanen S, Salmi TT, Jorde LB, Forsius HR, Eriksson AW (1992) Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases. Clin Genet 42:1–7
Rudnick DA, Perlmutter DH (2005) Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease. Hepatology 42:514–521
Rund D, Rachmilewitz E (2005) Beta-thalassemia. N Engl J Med 353:1135–1146
Salaspuro M, Sipponen P (1976) Demonstration of an intracellular copper-binding protein by orcein staining in long-standing cholestatic liver diseases. Gut 17:787–790
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, University of Washington Center for Mendelian Genomics, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ (2014) Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 46:326–328
Sambrotta M, Thompson RJ (2015) Mutations in TJP2, encoding zona occludens 2, and liver disease. Tissue Barriers 3:e1026537
Sampietro M, Piperno A, Lupica L, Arosio C, Vergani A, Corbetta N, Malosio I, Mattioli M, Fracanzani AL, Cappellini MD, Fiorelli G, Fargion S (1998) High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 27:181–184
Sanchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, Diaz MC, Larrauri J, Jara P (1999) A high index of suspicion: the key to an early diagnosis of Wilson’s disease in childhood. J Pediatr Gastroenterol Nutr 28:186–190
Sandhaus RA, Turino G, Brantly ML, Campos M, Cross CE, Goodman K, Hogarth DK, Knight SL, Stocks JM, Stoller JK, Strange C, Teckman J (2016) The diagnosis and management of Alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis 3:668–682
Schaefer B, Haschka D, Finkenstedt A, Petersen BS, Theurl I, Henninger B, Janecke AR, Wang CY, Lin HY, Veits L, Vogel W, Weiss G, Franke A, Zoller H (2015) Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. Hum Mol Genet 24:6254–6263
Scheinberg IHSI (1984) Wilson’s disease. In: Smith LH Jr. (Hrsg) Major problems in internal medicine. Saunders, Philadelphia, S 25–35
Scheinberg IH, Sternlieb I (1996) Wilson disease and idiopathic copper toxicosis. Am J Clin Nutr 63:842S–845S
Scheuer PJ, Williams R, Muir AR (1962) Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol 84:53–64
Schilsky ML, Ala A (2010) Genetic testing for Wilson disease: availability and utility. Curr Gastroenterol Rep 12:57–61
Schmidt PJ, Toran PT, Giannetti AM, Bjorkman PJ, Andrews NC (2008) The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression. Cell Metab 7:205–214
Schumacher G, Platz KP, Mueller AR, Neuhaus R, Luck W, Langrehr JM, Settmacher U, Steinmueller T, Becker M, Neuhaus P (2001) Liver transplantation in neurologic Wilson’s disease. Transplant Proc 33:1518–1519
Scott J, Gollan JL, Samourian S, Sherlock S (1978) Wilson’s disease, presenting as chronic active hepatitis. Gastroenterology 74:645–651
Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ (2013) Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology 58:958–965
Searle J, Kerr J, Halliday J, Powell L (1988) Iron storage disease. In: MacSween R, Anthony P, Scheuer P (Hrsg) Pathology of the Liver. Churchill Livingstone, London, S 181–202
Sebastiani G, Wallace DF, Davies SE, Kulhalli V, Walker AP, Dooley JS (2006) Fatty liver in H63D homozygotes with hyperferritinemia. World J Gastroenterol 12:1788–1792
Seftel HC, Malkin C, Schmaman A, Abrahams C, Lynch SR, Charlton RW, Bothwell TH (1966) Osteoporosis, scurvy, and siderosis in Johannesburg bantu. Br Med J 1:642–646
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforet P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ (2016) Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis 39:697–704
Senzolo M, Loreno M, Fagiuoli S, Zanus G, Canova D, Masier A, Russo FP, Sturniolo GC, Burra P (2007) Different neurological outcome of liver transplantation for Wilson’s disease in two homozygotic twins. Clin Neurol Neurosurg 109:71–75
Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Anneren G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317–328
Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E (2005) Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 34:157–161
Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E (2005) Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 34:157–161
She H, Xiong S, Lin M, Zandi E, Giulivi C, Tsukamoto H (2002) Iron activates NF-kappaB in Kupffer cells. Am J Physiol Gastrointest Liver Physiol 283:G719–26
Sheldon J (1935) Hemochromatosis. Oxford University Press, Oxford
Shim H, Harris ZL (2003) Genetic defects in copper metabolism. J Nutr 133:1527S–1531S
Siah CW, Ombiga J, Adams LA, Trinder D, Olynyk JK (2006) Normal iron metabolism and the pathophysiology of iron overload disorders. Clin Biochem Rev 27:5–16
Siebold L, Dick AA, Thompson R, Maggiore G, Jacquemin E, Jaffe R, Strautnieks S, Grammatikopoulos T, Horslen S, Whitington PF, Shneider BL (2010) Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease). Liver Transpl 16:856–863
Siersema PD, Rademakers LH, Cleton MI, ten Kate FJ, de Bruijn WC, Marx JJ, Wilson JH (1995) The difference in liver pathology between sporadic and familial forms of porphyria cutanea tarda: the role of iron. J Hepatol 23:259–267
Siersema PD, van Helvoirt RP, Ketelaars DA, Cleton MI, de Bruijn WC, Wilson JH, van Eijk HG (1991) Iron and uroporphyrin in hepatocytes of inbred mice in experimental porphyria: a biochemical and morphological study. Hepatology 14:1179–1188
Silverman EK, Sandhaus RA (2009) Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med 360:2749–2757
Smith AJ, Timmermans-Hereijgers JL, Roelofsen B, Wirtz KW, van Blitterswijk WJ, Smit JJ, Schinkel AH, Borst P (1994) The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett 354:263–266
Smith KC, Su WP, Pittelkow MR, Winkelmann RK (1989) Clinical and pathologic correlations in 96 patients with panniculitis, including 15 patients with deficient levels of alpha 1-antitrypsin. J Am Acad Dermatol 21:1192–1196
Sorrentino P, D’Angelo S, Ferbo U, Micheli P, Bracigliano A, Vecchione R (2009) Liver iron excess in patients with hepatocellular carcinoma developed on non-alcoholic steato-hepatitis. J Hepatol 50:351–357
Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH (2009) ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A 106:9709–9714
Stapelbroek JM, van Erpecum KJ, Klomp LW, Venneman NG, Schwartz TP, van Berge Henegouwen GP, Devlin J, van Nieuwkerk CM, Knisely AS, Houwen RH (2006) Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology 43:51–53
Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, Maier-Dobersberger T, Herneth A, Dragosics B, Meryn S, Knoflach P, Granditsch G, Gangl A (1997) Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 113:212–218
Steiner M, Ocran K, Genschel J, Meier P, Gerl H, Ventz M, Schneider ML, Buttner C, Wadowska K, Kerner W, Schuff-Werner P, Lochs H, Schmidt H (2002) A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 122:789–795
Sternlieb I (1992) Fraternal concordance of types of abnormal hepatocellular mitochondria in Wilson’s disease. Hepatology 16:728–732
Sternlieb I (1968) Mitochondrial and fatty changes in hepatocytes of patients with Wilson’s disease. Gastroenterology 55:354–367
Sternlieb I, Scheinberg IH (1972) Chronic hepatitis as a first manifestation of Wilson’s disease. Ann Intern Med 76:59–64
Sticova E, Jirsa M, Pawlowska J (2018) New insights in genetic Cholestasis: from molecular mechanisms to clinical implications. Can J Gastroenterol Hepatol 2018:2313675
Stoller JK, Aboussouan LS (2012) A review of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 185:246–259
Stolzel U, Kostler E, Schuppan D, Richter M, Wollina U, Doss MO, Wittekind C, Tannapfel A (2003) Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 139:309–313
Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20:233–238
Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozcay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Nemeth A, Kotalova R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ (2008) Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 134:1203–1214
Stremmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G (1991) Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 115:720–726
Strnad P, Buch S, Hamesch K, Fischer J, Rosendahl J, Schmelz R, Brueckner S, Brosch M, Heimes CV, Woditsch V, Scholten D, Nischalke HD, Janciauskiene S, Mandorfer M, Trauner M, Way MJ, McQuillin A, Reichert MC, Krawczyk M, Casper M, Lammert F, Braun F, von Schonfels W, Hinz S, Burmeister G, Hellerbrand C, Teufel A, Feldman A, Schattenberg JM, Bantel H, Pathil A, Demir M, Kluwe J, Boettler T, Ridinger M, Wodarz N, Soyka M, Rietschel M, Kiefer F, Weber T, Marhenke S, Vogel A, Hinrichsen H, Canbay A, Schlattjan M, Sosnowsky K, Sarrazin C, von Felden J, Geier A, Deltenre P, Sipos B, Schafmayer C, Nothnagel M, Aigner E, Datz C, Stickel F, Morgan MY, Hampe J, Berg T, Trautwein C (2019) Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut 68:1099–1107
Strnad P, Nuraldeen R, Guldiken N, Hartmann D, Mahajan V, Denk H, Haybaeck J (2013) Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models. Compr Physiol 3:1393–1436
Stromeyer FW, Ishak KG (1980) Histology of the liver in Wilson’s disease: a study of 34 cases. Am J Clin Pathol 73:12–24
Sumithran E, Looi LM (1985) Copper-binding protein in liver cells. Hum Pathol 16:677–682
Sveger T (1978) Alpha 1-Antitrypsin deficiency in early childhood. Pediatrics 62:22–25
Sveger T (1976) Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 294:1316–1321
Sveger T, Eriksson S (1995) The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology 22:514–517
Tannapfel A, Stolzel U, Kostler E, Melz S, Richter M, Keim V, Schuppan D, Wittekind C (2001) C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch 439:1–5
Tanner MS (1998) Role of copper in Indian childhood cirrhosis. Am J Clin Nutr 67:1074S–1081S
Tanner MS, Portmann B (1981) Indian childhood cirrhosis. Arch Dis Child 56:4–6
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344–350
Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD (2003) The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 278:41593–41596
Tapiero H, Townsend DM, Tew KD (2003) Trace elements in human physiology and pathology. Copper. Biomed Pharmacother 57:386–398
Tavill AS, Qadri AM (2004) Alcohol and iron. Semin Liver Dis 24:317–325
Teckman JH, Mangalat N (2015) Alpha-1 antitrypsin and liver disease: mechanisms of injury and novel interventions. Expert Rev Gastroenterol Hepatol 9:261–268
Thompson RS, Portmann BC, Roberts E (2012) Genetic and metabolic liver disease. In: Burt A, Portmann B, Ferrell L (Hrsg) MacSween’s pathology of the liver, 6. Aufl. Churchill Livingstone, Edinurgh, S 157–250
Timms AE, Sathananthan R, Bradbury L, Athanasou NA, Wordsworth BP, Brown MA (2002) Genetic testing for haemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 61:745–747
Torres-Duran M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Banuls L, Magallon M, Casas F, Dasi F (2018) Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet J Rare Dis 13:114
Trousseau A (1865) Glycosurie; diabete sucre. Clin Med Hotel Paris 2:663–698
Tsukamoto H, Lin M, Ohata M, Giulivi C, French SW, Brittenham G (1999) Iron primes hepatic macrophages for NF-kappaB activation in alcoholic liver injury. Am J Physiol 277:G1240–G1250
Turlin B, Deugnier Y (1997) Histological assessment of liver siderosis. J Clin Pathol 50:971
Turlin B, Mendler MH, Moirand R, Guyader D, Guillygomarc’h A, Deugnier Y (2001) Histologic features of the liver in insulin resistance-associated iron overload. A study of 139 patients. Am J Clin Pathol 116:263–270
Uc A, Stokes JB, Britigan BE (2004) Heme transport exhibits polarity in Caco-2 cells: evidence for an active and membrane protein-mediated process. Am J Physiol Gastrointest Liver Physiol 287:G1150–G1157
Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, Arias IM (2001) Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 34:768–775
Valenti L, Dongiovanni P, Fracanzani AL, Santorelli G, Fatta E, Bertelli C, Taioli E, Fiorelli G, Fargion S (2003) Increased susceptibility to nonalcoholic fatty liver disease in heterozygotes for the mutation responsible for hereditary hemochromatosis. Dig Liver Dis 35:172–178
Valenti L, Fracanzani AL, Bugianesi E, Dongiovanni P, Galmozzi E, Vanni E, Canavesi E, Lattuada E, Roviaro G, Marchesini G, Fargion S (2010) HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. Gastroenterology 138:905–912
Valenti L, Fracanzani AL, Dongiovanni P, Bugianesi E, Marchesini G, Manzini P, Vanni E, Fargion S (2007) Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: evidence from a case-control study. Am J Gastroenterol 102:1251–1258
Valenti L, Pulixi EA, Arosio P, Cremonesi L, Biasiotto G, Dongiovanni P, Maggioni M, Fargion S, Fracanzani AL (2007) Relative contribution of iron genes, dysmetabolism and hepatitis C virus (HCV) in the pathogenesis of altered iron regulation in HCV chronic hepatitis. Haematologica 92:1037–1042
Valko M, Morris H, Cronin MT (2005) Metals, toxicity and oxidative stress. Curr Med Chem 12:1161–1208
Valles-Ayoub Y, Esfandiarifard S, No D, Sinai P, Khokher Z, Kohan M, Kahen T, Darvish D (2011) Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. Genet Test Mol Biomarkers 15:395–398
van der Mark VA, de Waart DR, Ho-Mok KS, Tabbers MM, Voogt HW, Oude Elferink RP, Knisely AS, Paulusma CC (2014) The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells. Biochim Biophys Acta 1842:2378–2386
van der Mark VA, Ghiboub M, Marsman C, Zhao J, van Dijk R, Hiralall JK, Ho-Mok KS, Castricum Z, de Jonge WJ, Oude Elferink RP, Paulusma CC (2017) Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4. Cell Mol Life Sci 74:715–730
van Dongen EM, Klomp LW, Merkx M (2004) Copper-dependent protein-protein interactions studied by yeast two-hybrid analysis. Biochem Biophys Res Commun 323:789–795
van Mil SW, Houwen RH, Klomp LW (2005) Genetics of familial intrahepatic cholestasis syndromes. J Med Genet 42:449–463
van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW (2004) Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 127:379–384
van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH (2002) Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol 36:439–443
Vij M, Shanmugam NP, Reddy MS, Sankaranarayanan S, Rela M (2017) Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency. Virchows Arch 471:679–683
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D’Errico A, Seri M, Russell RB, Andreone P (2018) Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. J Gastroenterol 53:945–958
von Drygalski A, Adamson JW (2012) Iron metabolism in man. JPEN J Parenter Enteral Nutr 37:599–606
Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, Libina N, Gitschier J, Anderson GJ (1999) Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet 21:195–199
Wakabayashi Y, Lippincott-Schwartz J, Arias IM (2004) Intracellular trafficking of bile salt export pump (ABCB11) in polarized hepatic cells: constitutive cycling between the canalicular membrane and rab11-positive endosomes. Mol Biol Cell 15:3485–3496
Walker AR, Arvidsson UB (1953) Iron overload in the South African Bantu. Trans R Soc Trop Med Hyg 47:536–548
Walker AR, Arvidsson UB (1950) Iron intake and haemochromatosis in the Bantu. Nature 166:438–439
Walker NM, Stuart KA, Ryan RJ, Desai S, Saab S, Nicol JA, Fletcher LM, Crawford DH (2010) Serum ferritin concentration predicts mortality in patients awaiting liver transplantation. Hepatology 51:1683–1691
Wallace DF, Dooley JS, Walker AP (1999) A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116:1409–1412
Walshe JM (2006) History of Wilson’s disease: 1912 to 2000. Mov Disord 21:142–147
Walshe JM, Dixon AK (1986) Dangers of non-compliance in Wilson’s disease. Lancet 1:845–847
Wang DQ, Fiske LM, Carreras CT, Weinstein DA (2011) Natural history of hepatocellular adenoma formation in glycogen storage disease type I. J Pediatr 159:442–446
Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW (2013) Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 15:106–114
Wapnick AA, Lynch SR, Seftel HC, Charlton RW, Bothwell TH, Jowsey J (1971) The effect of siderosis and ascorbic acid depletion on bone metabolism, with special reference to osteoporosis in the Bantu. Br J Nutr 25:367–376
Watanuki T, Nakamura K, Koizumi K, Konno T, Fujii M (1967) Wolman’s disease. Saishin Igaku 22:302–314
Weinstein DA, Steuerwald U, De Souza CFM, Derks TGJ (2018) Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and inherited disorders of gluconeogenesis. Pediatr Clin North Am 65:247–265
Wendum D, Barbu V, Rosmorduc O, Arrive L, Flejou JF, Poupon R (2012) Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch 460:291–298
Whitington PF (2007) Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin Liver Dis 27:243–250
Whitington PF, Hibbard JU (2004) High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet 364:1690–1698
Whitington PF, Kelly S (2008) Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics 121:e1615–e1621
Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR (2006) Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 145:209–223
Wijmenga C, Muller T, Murli IS, Brunt T, Feichtinger H, Schonitzer D, Houwen RH, Muller W, Sandkuijl LA, Pearson PL (1998) Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson’s disease. Eur J Hum Genet 6:624–628
Wilson S (1912) Progressive lenticular degeneration: a familial nervous disorder associated with cirrhosis of the liver. Brain 34:295–507
Wilson DC, Phillips MJ, Cox DW, Roberts EA (2000) Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr 137:719–722
Wolman M, Sterk VV, Gatt S, Frenkel M (1961) Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant. Pediatrics 28:742–757
Yamaguchi Y, Heiny ME, Gitlin JD (1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197:271–277
Yang F, Naylor SL, Lum JB, Cutshaw S, McCombs JL, Naberhaus KH, McGill JR, Adrian GS, Moore CM, Barnett DR (1986) Characterization, mapping, and expression of the human ceruloplasmin gene. Proc Natl Acad Sci U S A 83:3257–3261
Yanir A, Allatif MA, Weintraub M, Stepensky P (2013) Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab 109:224–226
Yano M, Hayashi H, Wakusawa S, Sanae F, Takikawa T, Shiono Y, Arao M, Ukai K, Ito H, Watanabe K, Yoshioka K (2002) Long term effects of phlebotomy on biochemical and histological parameters of chronic hepatitis C. Am J Gastroenterol 97:133–137
Yener S, Akarsu M, Karacanci C, Sengul B, Topalak O, Biberoglu K, Akpinar H (2004) Wilson’s disease with coexisting autoimmune hepatitis. J Gastroenterol Hepatol 19:114–116
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, Ikeda S, Shimizu N, Yanagisawa N (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 9:267–272
Younossi ZM, Gramlich T, Bacon BR, Matteoni CA, Boparai N, O’Neill R, McCullough AJ (1999) Hepatic iron and nonalcoholic fatty liver disease. Hepatology 30:847–850
Zhan L, Liu HX, Fang Y, Kong B, He Y, Zhong XB, Fang J, Wan YJ, Guo GL (2014) Genome-wide binding and transcriptome analysis of human farnesoid X receptor in primary human hepatocytes. PLoS ONE 9:e105930
Zhang B, Porto AF (2013) Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr 56:682–685
Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS (2015) Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology 62:1914–1916
Zimmermann A, Zimmermann T, Schattenberg J, Pottgen S, Lotz J, Rossmann H, Roeddiger R, Biesterfeld S, Geiss HC, Schuchmann M, Galle PR, Weber MM (2011) Alterations in lipid, carbohydrate and iron metabolism in patients with non-alcoholic steatohepatitis (NASH) and metabolic syndrome. Eur J Intern Med 22:305–310
Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrie N (2008) ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 135:131–141
Ziyeh S, Harzer K (1994) Bone marrow cytological storage phenomena in lipidoses. Eur J Pediatr 153:224–233
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Lackner, C., Knisely, A.S. (2020). Hereditäre Lebererkrankungen. In: Tannapfel, A., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04557-8_4
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