Genetics of idiopathic nephrotic syndrome

Indian Journal of Pediatrics

Volumn 72, Issue 9, 2005, Pages 777-783

  Vats, Abhay N ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

Genetic factors; Nephrotic syndrome; Podocytes; Proteinuria

Indexed keywords

ALPHA ACTININ; CD2 ASSOCIATED PROTEIN; NEPHRIN; PODOCIN; WT1 PROTEIN;

CLINICAL FEATURE; CONFERENCE PAPER; FAMILY HISTORY; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC LINKAGE; GLOMERULUS BASEMENT MEMBRANE; HEREDITY; HUMAN; NEPHROTIC SYNDROME; PODOCYTE; PROTEINURIA;

EID: 27644551257     PISSN: 00195456     EISSN: 00195456     Source Type: Journal    
DOI: 10.1007/BF02734151     Document Type: Conference Paper

References (52)

1. Nephrotic syndrome in children: prediction of histopathology from clinical and laboratory characteristics at time of diagnosis-a report of the International Study of Kidney Disease in Children. Kidney Int 1978; 13: 159-165.
2. McEnery PT, Strife CF. NS in childhood. Management and treatment in patients with minimal change disease, mesangial proliferation, or focal glomerulosclerosis. Pediatr Clin North Am 1982; 29: 875-894.
3. Sharples PM, Poulton J. White RH. Steroid responsive NS is more common in Asians. Arch Dis Child 1985; 60: 1014-1017.
4. Gulati S, Sharma AP, Sharma RK, Gupta A. Changing trends of histopathology in childhood nephrotic syndrome. Am J Kidney Dis 1999; 34: 646-650.
5. Conlon PJ, Lynn KL, Winn MP et al. Spectrum of disease in familial focal and segmental glomerulosclerosis (FFSGS). Kidney Int 1999; 56: 1863-1871.
6. Ichikawa I, Fogo A. Focal segmental glomerulosclerosis. Pediatr Nephrol 1996; 10: 374-391.
7. Eddy AA, Symons JM. Nephrotic syndrome in childhood. Lancet 2003; 362: 629-639.
8. Somlo S, Mundel P. Getting a foothold in nephrotic syndrome. Nat Genet 2000; 24: 333-335.
9. Winn MP. Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis. Nephrol Dial Transplant 2003; 18 [Suppl 6]: 14-20.
10. Pollak MR. The genetic basis of FSGS and steroid-resistant nephrosis. Semin Nephrol 2003; 23: 141-146.
11. Kestila M, Lenkkeri U, Mannikko M et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582.
12. Donoviel DB, Freed DD, Vogel H et al. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN. Mol Cell Biol 2001; 21: 4829-4836.
13. Sellin L, Huber TB, Gerke P et al. NEPH defines a novel family of podocin interacting proteins. FASEB J 2003; 17: 115-117.
14. Vats AN, Costello B, Mauer M. Glomerular structural factors in progression of congenital nephrotic syndrome. Pediatr Nephrol 2003; 18: 234-240.
15. Tryggvason K, Ruotsalainen V, Wartiovaara J. Discovery of the congenital nephrotic syndrome gene discloses the structure of the mysterious molecular sieve of the kidney. Int J Dev Biol 1999; 43: 445-451.
16. Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet P, Antignac C, Kashtan CE, Holmberg C, Olsen A, Kestila M, Tryggvason K. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 1999; 64: 51-61.
17. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in NS advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002; 11: 379-388.
18. Schultheiss M, Ruf RG, Mucha BE, Wiggins R, Fuchshuber A, Lichtenberger A, Hildebrandt F. No evidence for genotype/phenotype correlation in NPHSl and NPHS2 mutations. Pediatr Nephrol 2004; 19: 1340-1348.
19. Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 2003; 12: 3397-3405.
20. Boute N, Gribouval O, Roselli S et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephritic syndrome. Nat Genet 2000; 24: 349-354.
21. Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler MC, Antignac C. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol 2004; 24: 550-560.
22. Kawachi H, Koike H, Kurihara H, Sakai T, Shimizu F. Cloning of rat homologue of podocin: expression in proteinuric states and in developing glomeruli. J Am Soc Nephrol 2003; 14: 46-56.
23. Tsukaguchi H, Sudhakar A, Le TC et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 2002; 110: 1659-1666.
24. Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2002; 13: 388-393.
25. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002; 13: 400-405.
26. Ruf RG, Lichtenberger A, Karle SM et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15: 722-732.
27. Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571-579.
28. Caridi G, Bertelli R, Carrea A et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 2001; 12: 2742-2746.
29. Bertelli R, Ginevri F, Caridi G et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. Am J Kidney Dis 2003; 41: 1314-1321.
30. Shih NY, Li J, Karpitskii V et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999; 286: 312-315.
31. Shaw AS, Miner JH. CD2-associated protein and the kidney. Curr Opin Nephrol Hypertens 2001; 10: 19-22.
32. Huber TB, Hartleben B, Kim J et al. Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 2003; 23: 4917-4928.
33. Kim JM, Wu H, Green G et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 2003; 300: 1298-1300.
34. Mathis BJ, Kim SH, Calabrese MH et al. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int 1998; 53: 282-286.
35. Kaplan JM, Kim SH, North KN et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nature Genet 2000; 24: 251-256.
36. Smoyer WE, Mundel P, Gupta A, Welsh MJ. Podocyte alpha-actinin induction precedes foot process effacement in experimental nephrotic syndrome. Am J Physiol 1997; 273: F150-F157.
37. Kos CH, Le TC, Sinha S et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest 2003; 111: 1683-1690.
38. Michaud JL, Lemieux LI, Dube M et al. Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4. J Am Soc Nephrol 2003; 14: 1200-1211.
39. Schumacher V, Schver K, Wulh E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Broking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B. Spectrum of early onset nephrotic syndrome with WT1 missense mutations. Kidney Int 1998; 53 : 1594-1600.
40. Orloff MS, Iyengar SK, Winkler CA, Goddard KAB, Dart RA, Ahuja TS et al. Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol Genomics 2005; 21: 212-221.
41. Pelletier J, Bruening W, Kashtan CE et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991; 67: 437-447.
42. Guo JK, Menke AL, Gubler MC et al. WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum Mol Genet 2002; 11: 651-659.
43. Barbaux S, Niaudet P, Gubler MC et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997; 17: 467-470.
44. Patek CE, Fleming S, Miles CG, Bellamy CO, Ladomery M, Spraggon L, Mullins J, Hastie ND, and Hooper ML. Murine Denys-Drash syndrome: evidence of podocyte dedifferentiation and systemic mediation of glomerulosclerosis. Hum Mol Genet 2003; 12: 2379-2394.
45. Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 2005; 308: 1801-1804.
46. Reiser J, Polu KR, Moller CC, Kerdan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet May 27; (Epub ahead of print); 2005
47. Freichel M, Vennekens R, Olausson J, Hoffmann M, Muller C, Stolz S, Scheunemann J, Weißgerber P, Flockerzi V. Functional role of TRPC proteins in vivo: lessons from TRPC-deficient mouse models. Biochemical and Biophysical Research Communications 2004; 322: 1352-1358.
48. U. Wissenbach, B.A. Niemeyer, V. Flockerzi. TRP channels as potential drug targets. Biol Cell 2004; 96: 47-54.
49. Vats A, Nayak A, Ellis D, Randhawa PS, Finegold DN, Levinson KL, Ferrell RE. Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19ql3. Kidney Int 2000; 57: 875-881.
50. Ruf RG, Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E. Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p. J Am Soc Nephrol 2003; 14: 1897-1900
51. Chung KW, Ferrell RE, Ellis D, Barmada M, Moritz M, Finegold DN, Jaffe R, Vats A. African American hypertensive nephropathy maps to a new locus on chromosome 9q31-q32. Am J Hum Genet 2003; 73: 420-429.
52. Prakash S, Chung KW, Sinha S, Barmada M, Ellis D, Ferrell RE, Finegold DN, Randhawa PS, Dinda A, Vats A. Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24. J Am Soc Nephrol 2003; 14: 1794-803.