Skip to main content
SpringerLink
Log in
Book cover

Pediatric Nephrology pp 621–641Cite as

Inherited Glomerular Diseases

  • Reference work entry

  • 2896 Accesses

Abstract

In recent years the determined efforts of numerous investigators and the dedicated participation of patients, families and clinicians have led to the mapping and identification of numerous genetic loci involved in inherited glomerular disease and the functional characterization of their protein products. This information has generated important insights into the cell–cell and cell–matrix interactions required for normal glomerular structure and function, and the mechanisms by which genetically programmed disruptions in these interactions produce disease phenotypes.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   369.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Lang S, Stevenson B, Risdon RA. Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood. Histopathology 1990;16:331–337.

    Article  PubMed  CAS  Google Scholar 

  2. Piqueras AI, White RH, Raafat F, Moghal N, Milford DV. Renal biopsy diagnosis in children presenting with hematuria. Pediatr Nephrol 1998;12:386–391.

    Article  PubMed  CAS  Google Scholar 

  3. Schroder CH, Bontemps CM, Assmann KJM, Schuurmans-Stekhoven JH, Foidart JM, Monnens LAH, Veerkamp JH. Renal biopsy and family studies in 65 children with isolated hematuria. Acta Paediatr Scand 1990;79:630–636.

    Article  PubMed  CAS  Google Scholar 

  4. Trachtman H, Weiss R, Bennett B, Griefer I. Isolated hematuria in children: indications for a renal biopsy. Kidney Int 1984;25:94–99.

    Article  PubMed  CAS  Google Scholar 

  5. Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol 2004;15:2514–2527.

    Article  PubMed  Google Scholar 

  6. Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan CE. Type IV collagen a5 chain: normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 1994;144:986–996.

    PubMed  CAS  Google Scholar 

  7. Peissel B, Geng L, Kalluri R, Kashtan C, Rennke HG, Gallo GR, Yoshioka K, Sun MJ, Hudson BG, Neilson EG, Zhou J. Comparative distribution of the a1(IV), a5(IV) and a6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. J Clin Invest 1995;96:1948–1957.

    Article  PubMed  CAS  Google Scholar 

  8. Miner JH. Renal basement membrane components. Kidney Int 1999;56:2016–2024.

    Article  PubMed  CAS  Google Scholar 

  9. Guthrie LG. “Idiopathic”, or congenital, hereditary and familial hematuria. Lancet 1902;1:1243–1246.

    Article  Google Scholar 

  10. Hurst AF. Hereditary familial congenital haemorrhagic nephritis occurring in sixteen individuals in three generations. Guy’s Hosp Rec 1923;3:368–370.

    Google Scholar 

  11. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1:504–506.

    Article  PubMed  CAS  Google Scholar 

  12. Hinglais N, Grunfeld J-P, Bois LE. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport’s syndrome). Lab Invest 1972;27:473–487.

    PubMed  CAS  Google Scholar 

  13. Spear GS, Slusser RJ. Alport’s syndrome: emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972;69:213–222.

    PubMed  CAS  Google Scholar 

  14. Churg J, Sherman RL. Pathologic characteristics of hereditary nephritis. Arch Pathol 1973;95:374–379.

    PubMed  CAS  Google Scholar 

  15. Kashtan C, Fish AJ, Kleppel M, Yoshioka K, Michael AF. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest 1986;78:1035–1044.

    Article  PubMed  CAS  Google Scholar 

  16. McCoy RC, Johnson HK, Stone WJ, Wilson CB. Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. Kidney Int 1982;21:642–652.

    Article  PubMed  CAS  Google Scholar 

  17. Olson DL, Anand SK, Landing BH, Heuser E, Grushkin CM, Lieberman E. Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies. J Pediatr 1980;96:697–699.

    Article  PubMed  CAS  Google Scholar 

  18. Atkin CL, Hasstedt SJ, Menlove L, Cannon L, Kirschner N, Schwartz C, Nguyen K, Skolnick M. Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 1988;42:249–255.

    PubMed  CAS  Google Scholar 

  19. Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K. Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci USA 1990;87:1606–1610.

    Article  PubMed  CAS  Google Scholar 

  20. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224–1227.

    Article  PubMed  CAS  Google Scholar 

  21. Lemmink HH, Schröder CH, Monnens LAH, Smeets HJM. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997;9:477–499.

    Article  PubMed  CAS  Google Scholar 

  22. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer K-O, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000;11:649–657.

    PubMed  CAS  Google Scholar 

  23. Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clnical counseling. Nephrol Dial Transpl 2002;17:1218–1227.

    Article  Google Scholar 

  24. Barker DF, Pruchno CJ, Xiang X, Atkin CL, Stone EM, Deison JC, Fain PR, Gregory MC. A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. Am J Hum Genet 1996;58:1157–1165.

    PubMed  CAS  Google Scholar 

  25. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport Syndrome Concerted Action” study. J Am Soc Nephrol 2003;14:2603–2610.

    Article  PubMed  Google Scholar 

  26. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroeder CH, Smeets HJM, Reeders ST. Identification of mutations in the a3(IV) and a4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77–82.

    Article  PubMed  CAS  Google Scholar 

  27. Ding J, Stitzel J, Berry P, Hawkins E, Kashtan C. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Am Soc Nephrol 1995;5:1714–1717.

    PubMed  CAS  Google Scholar 

  28. Lemmink HH, Mochizuki T, Heuvel LPWJ, van den Schroder CH, Barrientos A, Monnens LAH, van Oost BA, Brunner HG, Reeders ST, Smeets HJM. Mutations in the type IV collagen a3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994;3:1269–1273.

    Article  PubMed  CAS  Google Scholar 

  29. Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld J-P, Palcoux J-B, Gubler M-C, Antignac C. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet 1998;63:1329–1340.

    Article  PubMed  CAS  Google Scholar 

  30. Longo I, Porcedda P, Mari F, Grachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 2002;61:1947–1956.

    Article  PubMed  CAS  Google Scholar 

  31. Pochet JM, Bobrie G, Landais P, Goldfarb B, Grunfeld J-P. Renal prognosis in Alport’s and related syndromes: influence of the mode of inheritance. Nephrol Dial Transpl 1989;4:1016–1021.

    CAS  Google Scholar 

  32. Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J. Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. Ophthalmic Genet 2000;21:217–225.

    PubMed  CAS  Google Scholar 

  33. Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R. Alport’s syndrome: a report of 58 cases and a review of the literature. Am J Med 1981;70:493–505.

    Article  PubMed  CAS  Google Scholar 

  34. Rumpelt H-J. Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 1980;13:203–207.

    PubMed  CAS  Google Scholar 

  35. Kim KH, Kim Y, Gubler MC, Steffes MW, Lane PH, Kashtan CE, Crosson JT, Mauer SM. Structural-functional relationships in Alport syndrome. J Am Soc Nephrol 1995;5:1659–1668.

    PubMed  CAS  Google Scholar 

  36. Grunfeld J-P, Noel LH, Hafez S, Droz D. Renal prognosis in women with hereditary nephritis. Clin Nephrol 1985;23:267–271.

    PubMed  CAS  Google Scholar 

  37. Colville DJ, Savige J. Alport syndrome: a review of the ocular manifestations. Ophthalmic Genet 1997;18:161–173.

    Article  PubMed  CAS  Google Scholar 

  38. Rhys C, Snyers B, Pirson Y. Recurrent corneal erosion associated with Alport’s syndrome. Kidney Int 1997;52:208–211.

    Article  PubMed  CAS  Google Scholar 

  39. Burke JP, Clearkin LG, Talbot JF. Recurrent corneal epithelial erosions in Alport’s syndrome. Acta Ophthalmol 1991;69:555–557.

    CAS  Google Scholar 

  40. Teekhasaenee C, Nimmanit S, Wutthiphan S, Vareesangthip K, Laohapand T, Malasitr P, Ritch R. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991;98:1207–1215.

    PubMed  CAS  Google Scholar 

  41. Garcia Torres R, Guarner V. Leiomiomatosis del esofago, traqueo bronquial y genital asociada con nefropatia hereditaria tipo Alport: un nuevo syndrome. Rev Gastroenterol Mex 1983;70:163–170.

    Google Scholar 

  42. Antignac C, Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol 1996;117:172–182.

    PubMed  CAS  Google Scholar 

  43. Garcia-Torres R, Cruz D, Orozco L, Heidet L, Gubler MC. Alport syndrome and diffuse leiomyomatosis: clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie 2000;21:9–12.

    PubMed  CAS  Google Scholar 

  44. Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST. Deletion of the paired a5(IV) and a6(IV) collagen genes in inherited smooth muscle tumors. Science 1993;261:1167–1169.

    Article  PubMed  CAS  Google Scholar 

  45. Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttinin M, Piccini M, Vitelli F, Ballabio A, Pober B. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? J Med Genet 1998;35:273–278.

    Article  PubMed  CAS  Google Scholar 

  46. Kashtan CE, Gubler MC, Sisson-Ross S, Mauer M. Chronology of renal scarring in males with Alport syndrome. Pediatr Nephrol 1998;12:269–274.

    Article  PubMed  CAS  Google Scholar 

  47. Kashtan CE, Kleppel MM, Gubler MC. Immunohistologic findings in Alport syndrome. Contrib Nephrol 1996;117:142–153.

    PubMed  CAS  Google Scholar 

  48. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995;47:1142–1147.

    Article  PubMed  CAS  Google Scholar 

  49. van der Loop FTL, Monnens LAH, Schroder CH, Lemmink HH, Breuning MH, Timmer EDJ, Smeets HJM. Identification of COL4A5 defects in Alport syndrome by immunochemistry of skin. Kidney Int 1999;55:1217–1224.

    Article  PubMed  CAS  Google Scholar 

  50. Massella L, Onetti Muda A, Faraggiana T, Bette C, Renieri A, Rizzoni G. Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease. Kidney Int 2003;64:1787–1791.

    Article  PubMed  CAS  Google Scholar 

  51. Wester DC, Atkin CL, Gregory MC. Alport syndrome: clinical update. J Am Acad Audiol 1995;6:73–79.

    PubMed  CAS  Google Scholar 

  52. Cosgrove D, Samuelson G, Meehan DT, Miller C, McGee J, Walsh EJ, Siegel M. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model of autosomal Alport syndrome. Hearing Res 1998;121:84–98.

    Article  CAS  Google Scholar 

  53. Harvey SJ, Mount R, Sado Y, Naito I, Ninomiya Y, Harrison R, Jefferson B, Jacobs R, Thorner PS. The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome. Am J Pathol 2001;159:1097–1104.

    Article  PubMed  CAS  Google Scholar 

  54. Kleppel MM, Santi PA, Cameron JD, Wieslander J, Michael AF. Human tissue distribution of novel basement membrane collagen. Am J Pathol 1989;134:813–825.

    PubMed  CAS  Google Scholar 

  55. Zehnder AF, Adams JC, Santi PA, Kristiansen AG, Wacharasindhu C, Mann S, Kalluri R, Gregory MC, Kashtan CE, Merchant SN. Distribution of type IV collagen in the cochlea in Alport syndrome. Arch Otolaryngol Head Neck Surg 2005;131:1007–1013.

    Article  PubMed  Google Scholar 

  56. Merchant SN, Burgess BJ, Adams JC, Kashtan CE, Gregory MC, Santi PA, Colvin R, Collins B, Nadol JB, Jr. Temporal bone histopathology in alport syndrome. Laryngoscope 2004;114:1609–1618.

    Article  PubMed  Google Scholar 

  57. Cheong HI, Kashtan CE, Kim Y, Kleppel MM, Michael AF. Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome. Lab Invest 1994;70:553–557.

    PubMed  CAS  Google Scholar 

  58. Ohkubo S, Takeda H, Higashide T, Ito M, Sakurai M, Shirao Y, Yanagida T, Oda Y, Sado Y. Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. Arch Ophthalmol 2003;121:846–850.

    Article  PubMed  CAS  Google Scholar 

  59. Chen L, Miyamura N, Ninomiya Y, Handa JT. Distribution of the collagen IV isoforms in human Bruch’s membrane. Br J Ophthalmol 2003;87:212–215.

    Article  PubMed  CAS  Google Scholar 

  60. Abe S, Amagasaki Y, Iyori S, Konishi K, Kato E, Sakaguchi H, Shimoyama K. Thin basement membrane syndrome in adults. J Clin Pathol 1987;40:318–322.

    Article  PubMed  CAS  Google Scholar 

  61. Kato T, Watanabe Y, Nakayasu K, Kanai A, Yajima Y. The ultrastructure of the lens capsule abnormalities in Alport’s syndrome. Jpn J Ophthalmol 1998;42:401–405.

    Article  PubMed  CAS  Google Scholar 

  62. Beerman I, Novak J, Wyatt RJ, Julian BA, Gharavi AG. The genetics of IgA nephropathy. Nat Clin Pract Nephrol 2007;3:325–338.

    Article  PubMed  CAS  Google Scholar 

  63. Bogdanovic RM, Dimitrijevic JZ, Nikolic VN, Ognjanovic MV, Rodic BD, Slavkovic BV. Membranoproliferative glomerulonephritis in two siblings: report and literature review. Pediatr Nephrol 2000;14:400–405.

    Article  PubMed  CAS  Google Scholar 

  64. Martin P, Heiskari N, Zhou J, Leinonen A, Tumelius T, Hertz JM, Barker D, Gregory M, Atkin C, Sturkarsdottir U, Neumann H, Springate J, Shows T, Pettersson E, Tryggvason K. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 1998;9:2291–2301.

    PubMed  CAS  Google Scholar 

  65. Gross O, Schulze-Lohoff E, Koepke ML, Beirowski B, Addicks K, Bloch W, Smyth N, Weber M. Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis. Nephrol Dial Transplant 2004;19:1716–1723.

    Article  PubMed  CAS  Google Scholar 

  66. Gross O, Beirowski B, Koepke ML, Kuck J, Reiner M, Addicks K, Smyth N, Schulze-Lohoff E, Weber M. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int 2003;63:438–446.

    Article  PubMed  CAS  Google Scholar 

  67. Gross O, Koepke ML, Beirowski B, Schulze-Lohoff E, Segerer S, Weber M. Nephroprotection by antifibrotic and anti-inflammatory effects of the vasopeptidase inhibitor AVE7688. Kidney Int 2005;68:456–463.

    Article  PubMed  CAS  Google Scholar 

  68. Sayers R, Kalluri R, Rodgers KD, Shield CF, Meehan DT, Cosgrove D. Role for transforming growth factor-beta 1 in Alport renal disease progression. Kidney Int 1999;56:1662–1673.

    Article  PubMed  CAS  Google Scholar 

  69. Ninichuk V, Gross O, Reichel C, Kandoga A, Pawar RD, Ciubar R, Segerer S, Belemezova E, Radomska E, Lcukow B, Perez de Lema G, Murphy PM, Gao J, Henger A, Kretzler M, Horuk R, Weber M, Krombach F, Schlondorff D, Anders H. Delayed chemokine receptor 1 blockade prolongs survival in collagen 4A3-deficient miche with Alport disease. J Am Soc Nephrol 2005;16:977–985.

    Article  PubMed  CAS  Google Scholar 

  70. Zeisberg M, Bottiglio C, Kumar N, Maeshima Y, Strutz F, Muller GA, Kalluri R. Bone morphogenic protein-7 inhibits progression of chronic renal fibrosis associated with two genetic mouse models. Am J Physiol Renal Physiol 2003;285:F1060–F1067.

    PubMed  CAS  Google Scholar 

  71. Zeisberg M, Khurana M, Rao VH, Cosgrove D, Rougier JP, Werner MC, Shield CF III, Werb Z, Kalluri R. Stage-specific action of matrix metalloproteinases influences progressive hereditary kidney disease. PLoS Med 2006;3:e100.

    Article  PubMed  CAS  Google Scholar 

  72. Sugimoto H, Mundel TM, Sund M, Xie L, Cosgrove D, Kalluri R. Bone-marrow-derived stem cells repair basement membrane collagen defects and reverse genetic kidney disease. Proc Natl Acad Sci USA 2006;103:7321–7326.

    Article  PubMed  CAS  Google Scholar 

  73. Prodromidi EI, Poulsom R, Jeffery R, Roufosse CA, Pollard PJ, Pusey CD, Cook HT. Bone marrow-derived cells contribute to podocyte regeneration and amelioration of renal disease in a mouse model of Alport syndrome. Stem Cells 2006;24:2448–2455.

    Article  PubMed  CAS  Google Scholar 

  74. Grodecki KM, Gains MJ, Baumal R, Osmond DH, Cotter B, Valli VE., Jacobs RM. Treatment of X-linked hereditary nephritis in Samoyed dogs with angiotensin converting enzyme inhibitor. J Comp Pathol 1997;117:209–225.

    Article  PubMed  CAS  Google Scholar 

  75. Cohen EP, Lemann J. In hereditary nephritis angiotensin-converting enzyme inhibition decreases proteinuria and may slow the rate of progression. Am J Kid Dis 1996;27:199–203.

    Article  PubMed  CAS  Google Scholar 

  76. Proesmans W, Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol 2004;19:271–275.

    Article  PubMed  Google Scholar 

  77. Chen D, Jefferson B, Harvey SJ, Zheng K, Gartley CJ, Jacobs RM, Thorner PS. Cyclosporine A slows the progressive renal disease of Alport syndrome (X-linked hereditary nephritis): results from a canine model. J Am Soc Nephrol 2003;14:690–698.

    Article  PubMed  CAS  Google Scholar 

  78. Callis L, Vila A, Carrera M, Nieto J. Long-term effects of cyclosporine A in Alport’s syndrome. Kidney Int 1999;55:1051–1056.

    Article  PubMed  CAS  Google Scholar 

  79. Charbit M, Dechaux M, Gagnadoux M, Grunfeld J, Niaudet P. Cyclosporine A therapy in Alport syndrome. Pediatr Nephrol 2003;22:57–63.

    Article  Google Scholar 

  80. Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transpl 2006;10:651–657.

    Article  Google Scholar 

  81. Brainwood D, Kashtan C, Gubler MC, Turner AN. Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation. Kidney Int 1998;53:762–766.

    Article  PubMed  CAS  Google Scholar 

  82. Dehan P, Heuvel LPWJ, Van Den Smeets HJM, Tryggvason K, Foidart J-M. Identification of post-transplant anti-a5(IV) collagen alloantibodies in X-linked Alport syndrome. Nephrol Dial Transpl 1996;11:1983–1988.

    Article  CAS  Google Scholar 

  83. Kalluri R, van den Heuvel LP, Smeets HJM, Schroder CH, Lemmink HH, Boutaud A, Neilson EG, Hudson BG. A COL4A3 gene mutation and post-transplant anti-a3(IV) collagen alloantibodies in Alport syndrome. Kidney Int 1995;47:1199–1204.

    Article  PubMed  CAS  Google Scholar 

  84. Wang XP, Fogo AB, Colon S, Giannico G, Abul-Ezz SR, Miner JH, Borza DB. Distinct epitopes for anti-glomerular basement membrane alport alloantibodies and goodpasture autoantibodies within the noncollagenous domain of {alpha}3(IV) Collagen: a Janus-Faced antigen. J Am Soc Nephrol 2005;16:3563–3571.

    Article  PubMed  CAS  Google Scholar 

  85. Marks MI, Drummond KN. Benign familial hematuria. Pediatrics 1969;44:590–593.

    PubMed  CAS  Google Scholar 

  86. McConville JM, West CD, McAdams AJ. Familial and nonfamilial benign hematuria. J Pediatr 1966;69:207–214.

    Article  PubMed  CAS  Google Scholar 

  87. Pardo V, Berian MG, Levi DF, Strauss J. Benign primary hematuria: clinicopathologic study of 65 patients. Am J Med 1979;67:817–822.

    Article  PubMed  CAS  Google Scholar 

  88. Aarons I, Smith PS, Davies RA, Woodroffe AJ, Clarkson AR. Thin-membrane nephropathy: a clinico-pathological study. Clin Nephrol 1989;32:151–158.

    PubMed  CAS  Google Scholar 

  89. Gubler MC, Beaufils H, Noel LH, Habib R. Signficance of thin glomerular basement membranes in hematuric children. Contrib Nephrol 1990;80:147–156.

    PubMed  CAS  Google Scholar 

  90. Piel CF, Biava CG, Goodman JR. Glomerular basement membrane attenuation in familial nephritis and “benign” hematuria. J Pediatr 1982;101:358–365.

    Article  PubMed  CAS  Google Scholar 

  91. Rogers PW, Kurtzman NA, Bunn SM, White MG. Familial benign essential hematuria. Arch Intern Med 1973;131:257–262.

    Article  PubMed  CAS  Google Scholar 

  92. Tiebosch ATMG, Frederik PM, van Breda Vriesman PJC, Mooy JMV, van Rie H, van de Wiel TWM, Wolters J, Zeppenfeldt E. Thin-basement-membrane nephropathy in adults with persistent hematuria. N Engl J Med 1989;320:14–18.

    Article  PubMed  CAS  Google Scholar 

  93. Yoshikawa N, Hashimoto H, Katayama Y, Yamada Y, Matsuo T. The thin glomerular basement membrane in children with hematuria. J Pathol 1984;142:253–257.

    Article  PubMed  CAS  Google Scholar 

  94. Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol 1999;19:464–467.

    Article  PubMed  CAS  Google Scholar 

  95. Auwardt R, Savige J, Wilson D. A comparison of the clinical and laboratory features of thin basement membrane disease (TBMD) and IgA glomerulonephritis (IgA GN). Clin Nephrol 1999;52:1–4.

    PubMed  CAS  Google Scholar 

  96. Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. J Am Soc Nephrol 2002;13:1248–1254.

    PubMed  CAS  Google Scholar 

  97. Goel S, Davenport A, Goode NP, Shires M, Hall CL, Harrison PR, Maciver AG. Clinical features and outcome of patients with thin and ultrathin glomerular membranes. QJM 1995;88:785–793.

    PubMed  CAS  Google Scholar 

  98. Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ. Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997;51:1596–1601.

    Article  PubMed  CAS  Google Scholar 

  99. van Paassen P, van Breda Vriesman PJ, van Rie H, Tervaert JW. Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-the Limburg renal registry. Kidney Int 2004;66:909–913.

    Article  PubMed  Google Scholar 

  100. Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C. COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 2007;18:3004–3016.

    Article  PubMed  CAS  Google Scholar 

  101. Vogler C, McAdams AJ, Homan SM. Glomerular basement membrane and lamina densa in infants and children: an ultrastructural evaluation. Pediatr Pathol 1987;7:527–534.

    Article  PubMed  CAS  Google Scholar 

  102. Steffes MW, Barbosa J, Basgen JM, Sutherland DER, Najarian JS, Mauer SM. Quantitative glomerular morphology of the normal human kidney. Kidney Int 1983;49:82–86.

    CAS  Google Scholar 

  103. Milanesi C, Rizzoni G, Braggion F, Galdiolo D. Electron microscopy for measurement of glomerular basement membrane width in children with benign familial hematuria. Appl Pathol 1984;2:199–204.

    PubMed  CAS  Google Scholar 

  104. Dische FE. Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy. Arch Pathol Lab Med 1992;116:43–49.

    PubMed  CAS  Google Scholar 

  105. Pettersson E, Tornroth T, Wieslander J. Abnormally thin glomerular basement membrane and the Goodpasture epitope. Clin Nephrol 1990;33:105–109.

    PubMed  CAS  Google Scholar 

  106. Blumenthal SS, Fritsche C, Lemann J. Establishing the diagnosis of benign familial hematuria: the importance of examining the urine sediment of family members. JAMA 1988;259:2263–2266.

    Article  PubMed  CAS  Google Scholar 

  107. Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP. Autosomal dominant Alport syndrome linked to the type IV collagen alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transpl 1997;12:1595–1599.

    Article  CAS  Google Scholar 

  108. van der Loop FTL, Heidet L, Timmer EDJ, van den Bosch BJC, Leinonen A, Antiganc C, Jefferson JA, Maxwell AP, Monnens LAH, Schroder CH, Smeets HJM. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000;58:1870–1875.

    Article  PubMed  CAS  Google Scholar 

  109. Ciccarese M, Casu D, Wong FK, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A. Identification of a new mutation in the a4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transpl 2001;16:2008–2012.

    Article  CAS  Google Scholar 

  110. Zhang KW, Tonna S, Wang YY, Rana K, Padavarat S, Savige J. Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)? Pediatr Nephrol 2007;22:645–651.

    Article  PubMed  Google Scholar 

  111. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007;357:2687–2695.

    Article  PubMed  CAS  Google Scholar 

  112. Pierson M, Cordier J, Hervouuet F, Rauber G. [An unusual congential and familial congenital malformative combination involving the eye and kidney]. J Genet Hum 1963;12:184–213.

    PubMed  CAS  Google Scholar 

  113. Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004;13:2625–2632.

    Article  PubMed  CAS  Google Scholar 

  114. Hofstaetter C, Neumann I, Lennert T, Dudenhausen JW. Prenatal diagnosis of diffuse mesangial glomerulosclerosis by ultrasonography: a longitudinal study of a case in an affected family. Fetal Diagn Ther 1996;11:126–131.

    Article  PubMed  CAS  Google Scholar 

  115. Glastre C, Cochat P, Bouvier R, Colon S, Cottin X, Giffon D, Wright C, Dijoud F, David L. Familial infantile syndrome with ocular abnormalities. Pediatr Nephrol 1990;4:340–342.

    Article  PubMed  CAS  Google Scholar 

  116. Swietlinski J, Maruniak-Chudek I, Niemir ZI, Wozniak A, Wilinska M, Zacharzewska J. A case of atypical congenital nephrotic syndrome. Pediatr Nephrol 2004;19:349–352.

    Article  PubMed  Google Scholar 

  117. Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Variable phenotype of Pierson syndrome. Pediatr Nephrol 2008;26(6):995–1000.

    Article  Google Scholar 

  118. Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatr Nephrol 2008;23:323–327.

    Article  PubMed  Google Scholar 

  119. Wuhl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A 2007;143:311–319.

    PubMed  Google Scholar 

  120. Matejas V, Al-Gazali L, Amirlak I, Zenker M. A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 2006;21:3283–3286.

    Article  PubMed  CAS  Google Scholar 

  121. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 2006;70:1008–1012.

    Article  PubMed  CAS  Google Scholar 

  122. Jarad G, Cunningham J, Shaw AS, Miner JH. Proteinuria precedes podocyte abnormalities inLamb2−/− mice, implicating the glomerular basement membrane as an albumin barrier. J Clin Invest 2006;116:2272–2279.

    Article  PubMed  CAS  Google Scholar 

  123. Mino RA, Mino VH, Livingstone RG. Osseous dysplasia and dystrophy of the nail: review of the literature and report of a case. Am J Roentgenol 1948;6:633–641.

    Google Scholar 

  124. Hawkins CF, E. SO. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950;I:803–808.

    Article  Google Scholar 

  125. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003;40:153–162.

    Article  PubMed  CAS  Google Scholar 

  126. Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005;13:935–946.

    Article  PubMed  CAS  Google Scholar 

  127. Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998;19:51–55.

    Article  PubMed  Google Scholar 

  128. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998;19:47–50.

    Article  PubMed  CAS  Google Scholar 

  129. Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998;7:1091–1098.

    Article  PubMed  CAS  Google Scholar 

  130. Hamlington JD, Jones C, McIntosh I. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. Hum Mutat 2001;18:458.

    Article  PubMed  CAS  Google Scholar 

  131. Knoers NV, Bongers EM, van Beersum SE, Lommen EJ, van Bokhoven H, Hol FA. Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families. J Am Soc Nephrol 2000;11:1762–1766.

    PubMed  CAS  Google Scholar 

  132. Clough MV, Hamlington JD, McIntosh I. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum Mutat 1999;14:459–465.

    Article  PubMed  CAS  Google Scholar 

  133. Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. Int J Mol Med 1999;4:285–290.

    PubMed  CAS  Google Scholar 

  134. McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998;63:1651–1658.

    Article  PubMed  CAS  Google Scholar 

  135. Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet 2000;9:1067–1074.

    Article  PubMed  CAS  Google Scholar 

  136. Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001;27:205–208.

    Article  PubMed  CAS  Google Scholar 

  137. Miner JH, Morello R, Andrews KL, Li C, Antignac C, Shaw AS, Lee B. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 2002;109:1065–1072.

    PubMed  CAS  Google Scholar 

  138. Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002;109:1073–1082.

    PubMed  CAS  Google Scholar 

  139. Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol 2003;163:145–155.

    Article  PubMed  CAS  Google Scholar 

  140. Meyrier A, Rizzo R, Gubler M-C. The nail-patella syndrome: a review. J Nephrol 1990;2:133–140.

    Google Scholar 

  141. Sweeney E, Fryer AE, Mountford RC, Green AJ, McIntosh I. Nail patella syndrome: a study of 123 patients from 43 British families and the detection of 16 novel mutations of LMX1B. Am J Hum Genet 2001;69(Suppl):A571.

    Google Scholar 

  142. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 2002;17:703–712.

    Article  PubMed  Google Scholar 

  143. Ben-Bassat M, Cohen L, Rosenfeld J. The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 1971;92:350–355.

    PubMed  CAS  Google Scholar 

  144. Hoyer JR, Michael AF, Vernier RL. Renal disease in nail-patella syndrome: clinical and morphologic studies. Kidney Int 1972;2:231–238.

    Article  PubMed  CAS  Google Scholar 

  145. Gubler MC, Dommergues JP, Foulard M, Bensman A, Leroy JP, Broyer M, Habib R. Collagen type III glomerulopathy: a new type of hereditary nephropathy. Pediatr Nephrol 1993;7:354–360.

    Article  PubMed  CAS  Google Scholar 

  146. Ikeda K, Yokoyama H, Tomosugi N, Kida H, Ooshima A, Kobayashi K. Primary glomerular fibrosis: a new nephropathy caused by diffuse intra-glomerular increase in atypical type III collagen fibers. Clin Nephrol 1990;33:155–159.

    PubMed  CAS  Google Scholar 

  147. Imbasciati E, Gherardi G, Morozumi K, Gudat F, Epper R, Basler V, Mihatsch MJ. Collagen type III glomerulopathy: a new idiopathic glomerular disease. Am J Nephrol 1991;11:422–429.

    Article  PubMed  CAS  Google Scholar 

  148. Salcedo JR. An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. Am J Med Genet 1984;19:579–584.

    Article  PubMed  CAS  Google Scholar 

  149. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH, Ablin AR. Hereditary macrothrombocytopenia, nephritis and deafness. Am J Med 1972;52:299–310.

    Article  PubMed  CAS  Google Scholar 

  150. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome: a variant of Alport’s syndrome with leukocyte inclusions and macrothrombocytopathia. Blood 1985;65:397–406.

    PubMed  CAS  Google Scholar 

  151. Clare NM, Montiel MM, Lifschitz MD, Bannayan GA. Alport’s syndrome associated with macrothrombocytopenic thrombocytopenia. Am J Clin Pathol 1979;72:111–117.

    PubMed  CAS  Google Scholar 

  152. Naito I, Nomura S, Inoue S, Kagawa M, Kawai S, Gunshin Y, Joh K, Tsukidate C, Sado Y, Osawa G. Normal distribution of collagen IV in renal basement membranes in Epstein’s syndrome. J Clin Pathol 1997;50:919–922.

    Article  PubMed  CAS  Google Scholar 

  153. Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Frok-Simoni F, Pras E, Rechavi G. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. Am J Hum Genet 1999;65:1711–1717.

    Article  PubMed  CAS  Google Scholar 

  154. Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A. Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood 2000;96:3447–3451.

    PubMed  CAS  Google Scholar 

  155. Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000;67:1121–1128.

    PubMed  CAS  Google Scholar 

  156. Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003;82:203–215.

    Google Scholar 

  157. Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet 2002;110:182–186.

    Article  PubMed  CAS  Google Scholar 

  158. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d’Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 2000;26:103–105.

    Article  PubMed  CAS  Google Scholar 

  159. Arrondel C, Vodovar N, Knebelmann B, Grunfeld JP, Gubler MC, Antignac C, Heidet L. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndrome. J Am Soc Npehrol 2002;13:65–74.

    CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  161. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547–1557.

    Article  PubMed  CAS  Google Scholar 

  162. Desnick RJ, Banikazemi M, Wasserstein M. Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol 2002;57:1–8.

    PubMed  CAS  Google Scholar 

  163. Maroteaux P, Humbel R, Strecker G, Michalski JC, Mande R. [A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study]. Arch Fr Pediatr 1978;35:819–829.

    PubMed  CAS  Google Scholar 

  164. Kashtan CE, Nevins TE, Posalaky Z, Vernier RL, Fish AJ. Proteinuria in a child with sialidosis: case report and histological studies. Pediatr Nephrol 1989;3:166–174.

    Article  PubMed  CAS  Google Scholar 

  165. Faraggiana J, Churg J. Renal lipidoses: a review. Hum Pathol 1987;7:661–679.

    Article  Google Scholar 

  166. Benson MD. Amyloidosis. In The metabolic basis of inherited disease. Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill, 1995, pp. 4157–4194.

    Google Scholar 

  167. Dode C, Hazenberg BP, Pecheux C, Cattan D, Moulin B, Barthelemy A, Gubler MC, Delpech M, Grateau G. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002;17:1212–1217.

    Article  PubMed  CAS  Google Scholar 

  168. Moroz SP, Cutz E, Balfe JW, Sass-Kortsak A. Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency. Pediatrics 1976;57:232–238.

    PubMed  CAS  Google Scholar 

  169. Levy M, Gubler MC, Hadchouel M, Niaudet P, Habib R, Odievre M. [Alpha-1-antitrypsin deficiency and renal involvement]. Nephrologie 1985;6:65–70.

    PubMed  CAS  Google Scholar 

  170. Davis ID, Burke B, Freese D, Sharp HL, Kim Y. The pathologic spectrum of the nephropathy associated with alpha 1-antitrypsin deficiency. Hum Pathol 1992;23:57–62.

    Article  PubMed  CAS  Google Scholar 

  171. Elzouki AN, Lindgren S, Nilsson S, Veress B, Eriksson S. Severe alpha1-antitrypsin deficiency (PiZ homozygosity) with membranoproliferative glomerulonephritis and nephrotic syndrome, reversible after orthotopic liver transplantation. J Hepatol 1997;26:1403–1407.

    Article  PubMed  CAS  Google Scholar 

  172. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997;16:243–251.

    Article  PubMed  CAS  Google Scholar 

  173. Habib R, Dommergues JP, Gubler MC, Hadchouel M, Gautier M, Odievre M, Alagille D. Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia). Pediatr Nephrol 1987;1:455–464.

    Article  PubMed  CAS  Google Scholar 

  174. Gjone E. Familial lecithin:cholesterol acyltransferase deficiency – a new metabolic disease with renal involvement. Adv Nephrol Necker Hosp 1981;10:167–185.

    PubMed  CAS  Google Scholar 

  175. Saito T, Sato H, Kudo K, Oikawa S, Shibata T, Hara Y, Yoshinaga K, Sakaguchi H. Lipoprotein glomerulopathy: glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. Am J Kidney Dis 1989;13:148–153.

    PubMed  CAS  Google Scholar 

  176. Maruyama K, Arai H, Ogawa T, Tomizawa S, Morikawa A. Lipoprotein glomerulopathy: a pediatric case report. Pediatr Nephrol 1997;11:213–214.

    Article  PubMed  CAS  Google Scholar 

  177. Miyata T, Sugiyama S, Nangaku M, Suzuki D, Uragami K, Inagi R, Sakai H, Kurokawa K. Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney. J Am Soc Nephrol 1999;10:1590–1595.

    PubMed  CAS  Google Scholar 

  178. Oikawa S, Matsunaga A, Saito T, Sato H, Seki T, Hoshi K, Hayasaka K, Kotake H, Midorikawa H, Sekikawa A, Hara S, Abe K, Toyota T, Jingami H, Nakamura H, Sasaki J. Apolipoprotein E Sendai (arginine 145– >proline): a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol 1997;8:820–823.

    PubMed  CAS  Google Scholar 

  179. Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B12 absorption with proteinuria). Orphanet J Rare Dis 2006;19:17.

    Article  Google Scholar 

  180. Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore) 1996;75:233–250.

    Article  CAS  Google Scholar 

  181. Gherardi R, Belghiti-Deprez D, Hirbec G, Bouche P, Weil B, Lagrue G. Focal glomerulosclerosis associated with Charcot-Marie-Tooth disease. Nephron 1985;40:357–361.

    Article  PubMed  CAS  Google Scholar 

  182. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68–84.

    Article  PubMed  CAS  Google Scholar 

  183. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 2007;145:1388–1396.

    Article  PubMed  CAS  Google Scholar 

  184. Hirooka M, Hirota M, Kamada M. Renal lesions in Cockayne syndrome. Pediatr Nephrol 1988;2:239–243.

    Article  PubMed  CAS  Google Scholar 

  185. Shinohara O, Kubota C, Kimura M, Nishimura G, Takahashi S. Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. Am J Med Genet 1991;41:482–486.

    Article  PubMed  CAS  Google Scholar 

  186. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002–1009.

    Article  PubMed  CAS  Google Scholar 

  187. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 1988;319:615–618.

    Article  PubMed  CAS  Google Scholar 

  188. Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 2007;22:926–936.

    Article  PubMed  Google Scholar 

  189. Goldstein JL, Fialkow PJ. The Alstrom syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore) 1973;52:53–71.

    CAS  Google Scholar 

  190. Strom EH, Banfi G, Krapf R, Abt AB, Mazzucco G, Monga G, Gloor F, Neuweiler J, Riess R, Stosiek P et al. Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease. Kidney Int 1995;48:163–170.

    Article  PubMed  CAS  Google Scholar 

  191. Assmann KJ, Koene RA, Wetzels JF. Familial glomerulonephritis characterized by massive deposits of fibronectin. Am J Kidney Dis 1995;25:781–791.

    Article  PubMed  CAS  Google Scholar 

  192. Gemperle O, Neuweiler J, Reutter FW, Hildebrandt F, Krapf R. Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year follow-up in a large kindred. Am J Kidney Dis 1996;28:668–675.

    Article  PubMed  CAS  Google Scholar 

  193. Castelletti F, Donadelli R, Banteria F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M. Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci USA 2008;105:2538–2543.

    Article  PubMed  CAS  Google Scholar 

  194. Vollmer M, Jung M, Ruschendorf E, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F. The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster. Am J Hum Genet 1998;63:1724–1731.

    Article  PubMed  CAS  Google Scholar 

  195. Grottum KA, Flatmark A, Myhre E et al. Immunological hereditary nephropathy. Acta Med Scand 1974;571:1–28.

    Google Scholar 

  196. Niaudet P, Rotig A. The kidney in mitochondrial cytopathies. Kidney Int 1997;51:1000–1007.

    Article  PubMed  CAS  Google Scholar 

Download references

Authors
  1. Clifford E. Kashtan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marie-Claire Gubler
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Medical College of Wisconsin, Wisconsin, USA

    Ellis Avner (Director, Children's Research Institute, CHHS, Associate Dean for Research, Professor of Pediatrics and Physiology) (Director, Children's Research Institute, CHHS, Associate Dean for Research, Professor of Pediatrics and Physiology)

  2. Harvard Medical School, Children's Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    William Harmon (Professor of Pediatrics, Director, Pediatric Nephrology) (Professor of Pediatrics, Director, Pediatric Nephrology)

  3. Service de Néphrologie Pédiatrique Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker‐Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France

    Patrick Niaudet

  4. Department of Pediatrics Wakayama Medical University, Wakayama Medical University Hospital, 641–8510811–1, Kimiidera, Wakayama City, Japan

    Norishige Yoshikawa (Professor and Chair Pediatrician‐in‐Chief) (Professor and Chair Pediatrician‐in‐Chief)

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer-Verlag Berlin Heidelberg

About this entry

Cite this entry

Kashtan, C.E., Gubler, MC. (2009). Inherited Glomerular Diseases. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76341-3_26

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-76341-3_26

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-76327-7

  • Online ISBN: 978-3-540-76341-3

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation