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Metabolische Erkrankungen mit glomerulärer Beteiligung

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Pädiatrische Nephrologie
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Zusammenfassung

Verschiedene meist hereditär bedingte Stoffwechselstörungen können zu einer progressiven glomerulären Nierenerkrankung führen, entweder im Rahmen einer generalisierten Kapillarschädigung (Diabetes mellitus), einer glomerulären Hyperfiltration (ebenfalls Diabetes mellitus, Glykogenose Typ 1) oder infolge einer glomerulären Ablagerung abnormer Substanzen (Morbus Fabry, Amyloidose). Zur letzten Gruppe gehören noch weitere Erkrankungen, z.B. Alagille-Syndrom, Lezithin-Cholesterin-Acyltransferasemangel, Lipoprotein-Glomerulopathie); hierfür sei auf die Standardwerke über hereditäre Stoffwechselerkrankungen verwiesen (Desnick et al. 2001).

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Literatur

  • Andersen S, Tarnow L, Rossing P, Hansen BV, Parving HH (2000) Renoprotective effects of angiotensin II receptor blockade in type 1 diabetic patients with diabetic nephropathy. Kidney Int 57: 601–606

    Article  PubMed  CAS  Google Scholar 

  • Caliskan S, Ficicioglu C, Hacibekiroglu M et al. (1997) Tubular markers in children with insulin-dependent diabetes mellitus. Turk J Pediatr 39: 213–218

    PubMed  CAS  Google Scholar 

  • Cazeneuve C, Sarkisian T, Pecheux C et al. (1999) MEFVgene analysis in armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694 V homozygous genotype—genetic and therapeutic implications. Am J Hum Genet 65: 88–97

    Article  PubMed  CAS  Google Scholar 

  • Cooper ME (1998) Pathogenesis, prevention, and treatment of diabetic nephropathy. Lancet 352: 213–219

    Article  PubMed  CAS  Google Scholar 

  • Desnick RJ, Ioannou YA, Eng CM. (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver R, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733–3774

    Google Scholar 

  • The Diabetes Control and Complications Trial Research Group (1993) The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. N Engl J Med 329: 977–986

    Article  Google Scholar 

  • The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (2000) Retinopathy and nephropathy in patients with type 1 Diabetes 4 years after a trial of intensive therapy. N Engl J Med 342: 381–389

    Article  Google Scholar 

  • Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R (1978) Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 13: 223–235

    Article  PubMed  CAS  Google Scholar 

  • Jadoul M, Dode C, Cosyns JP et al. (2001) Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene. Kidney Int 59: 1677–1682

    Article  PubMed  CAS  Google Scholar 

  • Lewis EJ, Hunsicker LG, Bain RP, Rohde RD for The Collaborative Study Group (1993) The effect of angiotensinconverting-enzyme inhibition on diabetic nephropathy. N Engl J Med 329: 1456–1462

    Article  PubMed  CAS  Google Scholar 

  • Majeed HA, Rawashdeh M, el-Shanti H, Qubain H, Khuri-Bulos N, Shahin HM (1999) Familial Mediterranean fever in children: The expanded clinical profile. Q J Med 92: 309–318

    Article  CAS  Google Scholar 

  • Mathiesen ER, Hommel E, Hansen HP, Smidt UM, Parving HH (1999) Randomised controlled trial of long term efficacy of Captopril on preservation of kidney function in normotensive patients with insulin dependent diabetes and microalbuminuria. Br Med J 319: 24–25

    Article  CAS  Google Scholar 

  • Praet M, Quatacker J, Van Loo A, Vanholder R, Lameire N, Ringoir S (1995) Non-invasive diagnosis of Fabry’s disease by electronmicroscopic evaluation of urinary sediment. Nephrol Dial Transplant 10: 902–903

    PubMed  CAS  Google Scholar 

  • Rawashdeh MO, Majeed HA (1996) Familial Mediterranean fever in Arab children: The high prevalence and gene frequency. Eur J Pediatr 155: 540–544

    Article  PubMed  CAS  Google Scholar 

  • Reitsma-Bierens WC (1993) Renal complications in glycogen storage disease type I. Europ J Pediatr 152 (Suppl 1): S60–S62

    Article  Google Scholar 

  • Restaino I, Kaplan BS, Stanley C, Baker L (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 122: 392–396

    Article  PubMed  CAS  Google Scholar 

  • Saatci U, Ozen S, Özdemir S, Bakkaloglu A, Besbas N, Topaloglu R, Arslan S (1997) Familial Mediterranean fever in children: Report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156: 619–623

    Article  PubMed  CAS  Google Scholar 

  • Said R, Hamzeh Y, Said S, Tarawneh M, al-Khateeb M (1992) Spectrum of renal involvement in familial Mediterranean fever. Kidney Int 41: 414–419

    Article  PubMed  CAS  Google Scholar 

  • Sarkissian A, Papazian M, Sanamyan A, Leumann E (2000) Colchicine in the treatment of renal amyloidosis secondary to familial Mediterranean fever. Nephrol Dial Transplant 15: 1098

    Article  PubMed  CAS  Google Scholar 

  • Sheth KJ, Roth DA, Adams MB (1983) Early renal failure in Fabry’s disease. Am J Kidney Dis 2: 651–654

    PubMed  CAS  Google Scholar 

  • Smit GP (1993) The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 152(Suppl 1): S52–S55

    Article  PubMed  Google Scholar 

  • Veiga-da-Cunha M, Gerin I, Chen YT et al. (1999) The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet 7: 717–723

    Article  PubMed  CAS  Google Scholar 

  • Walker JD, Close CF, Jones SL, Rafftery M, Keen H, Viberti G, Osterby R (1992) Glomerular structure in type-1 (insulindependent) diabetic patients with normo-and microalbuminuria. Kidney Int 41: 741–748

    Article  PubMed  CAS  Google Scholar 

  • Wüthrich RP, Weinreich T, Binswanger U, Gloor HJ, Candinas D, Hailemariam S (1998) Should living related kidney transplantation be considered for patients with renal failure due to Fabry’s disease? Nephrol Dial Transplant 13: 2934–2936

    Article  PubMed  Google Scholar 

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Leumann, E.P. (2002). Metabolische Erkrankungen mit glomerulärer Beteiligung. In: Schärer, K., Mehls, O. (eds) Pädiatrische Nephrologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56378-2_30

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  • DOI: https://doi.org/10.1007/978-3-642-56378-2_30

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62621-0

  • Online ISBN: 978-3-642-56378-2

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