Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

Pediatric Nephrology

Volumn 23, Issue 9, 2008, Pages 1455-1460

  Chernin, Gil ^a   Heeringa, Saskia F ^a   Gbadegesin, Rasheed ^a   Liu, Jinhong ^a   Hinkes, Bernward G ^a   Vlangos, Christopher N ^a   Vega Warner, Virginia ^a   Hildebrandt, Friedhelm ^a,b  

^a UNIVERSITY OF MICHIGAN   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

African American; Mutations; Nephrotic syndrome; NPHS2; WT1

Indexed keywords

PODOCIN; STEROID; TACROLIMUS; WT1 PROTEIN;

ADOLESCENT; AFRICAN AMERICAN; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE COURSE; DRUG RESPONSE; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MINIMAL CHANGE GLOMERULONEPHRITIS; MUTATION RATE; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADRENAL CORTEX HORMONES; AFRICAN AMERICANS; CHILD; CHILD, PRESCHOOL; DRUG RESISTANCE; FEMALE; GENES, WILMS TUMOR; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME;

EID: 47749092742     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0861-7     Document Type: Article

References (39)

1. International study of kidney disease in children (1981) Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity: A report of the International Study of kidney disease in Children. Kidney Int 20:765-771
2. McBryde KD, Kershaw DB, Smoyer WE (2001) Pediatric steroid-resistant nephrotic syndrome. Curr Probl Pediatr 31:275-307
3. Kim JS, Bellew CA, Silverstein DM, Aviles DH, Boineau FG, Vehaskari VM (2005) High incidence of initial and late steroid resistance in childhood nephrotic syndrome. Kidney Int 68:1275-1281
4. Bonilla-Felix M, Parra C, Dajani T, Ferris M, Swinford RD, Portman RJ, Verani R (1999) Changing patterns in the histopathology of idiopathic nephrotic syndrome in children. Kidney Int 55:1885-1890
5. Srivastava T, Simon SD, Alon US (1999) High incidence of focal segmental glomerulosclerosis in nephrotic syndrome of childhood. Pediatr Nephrol 13:13-18
6. Sorof JM, Hawkins EP, Brewer ED, Boydstun II, Kale AS, Powel DR (1998) Age and ethnicity affect risk and outcome of focal segmental glomerulosclerosis. Pediatr Nephrol 12:764-768
7. Butani L, Polinski MS, Kaiser BA, Baluarte HJ (1999) Predictive value of race in post-transplantation recurrence of focal segmental glomerulosclerosis in children. Nephrol Dial Transplant 14:166-168
8. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCreadi P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 4:575-582
9. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354
10. Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Meumann LM, Reis A (2004) Human laminin beta 2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625-2632
11. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Phol M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 70:1008-1012
12. Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Liu J, Attansio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelly GG, Smrcka AV, Gudermann T, Holtzman LB, Nürnberg P, Hildebrandt F (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38:1397-1405
13. Löwik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP (2007) Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 72:1198-1203
14. Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F, APN Study Group (2004) Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66:564-570
15. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs HA, Pollak MR (2004) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segemental glomerulosclerosis. Nat Genet 24:251-256
16. 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 (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801-1804
17. Kim JM, Wu H, Green G, Winkler CA, Copp JB, Miner JH, Unanue ER, Shaw AS (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300:1298-1300
18. Wiggins RC (2007) The spectrum of podocytopathies: A unifying view of glomerular diseases. Kidney Int 17:1205-1214
19. Karle SM, Uetz B, Ronner V, Glaeser V, Hildebrandt F, Fuchshuber A (2002) Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13:388-393
20. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf E, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F, Arbeitsgemeinschaft für Pädiatrische Nephrologie Study Group (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732
21. Weber S, Gribouval O, Osquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C (2004) NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66:571-579
22. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A (2002) Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 13:400-405
23. Berdeli A, Mir S, Yavascan O, Serdaroglu E, Bak M, Aksu N, Oner A, Anarat A, Osman D, Yildiz N, Sever L, Tabel Y, Dusunsel R, Sonmez F, Cakar N (2007) NPHS2 (podocin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol 22:2031-2040
24. Özçakar ZB, Cengiz FB, Cakar N, Uncu N, Kara N, Acar B, Yüksel S, Ekim M, Tekin M, Yalçinkaya F (2006) Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. Pediatr Nephrol 21:1093-1096
25. Mao J, Zhang Y, Du L, Dai Y, Gu W, Liu A, Shang S, Liang L (2007) NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr Res 61:117-122
26. Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J (2005) Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant 20:902-908
27. Sako M, Nakanishi K, Obana M, Yata N, Hoshil S, Takahashi S, Wada N, Takahashi Y, Kaku Y, Satomura K, Ikeda M, Honda M, Iijima K, Yoshikawa N (2005) Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 67:1248-1255
28. Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y, Cheong HI (2008) WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23:63-70
29. Kitamura A, Tsukaguchi H, Iijima K, Araki J, Hattori M, Ikeda M, Honda M, Nozu K, Nakazato H, Yoshikawa N, Kagami S, Muramatsu M, Choi Y, Cheong HI, Doi T (2006) Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. Nephrol Dial Transplant 21:3133-3138
30. Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemura O, Satomura K, Honda M, Yoshikawa N (2003) NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 18:412-416
31. Aucella F, Bisceglia L, De Bonis P, Cigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM (2006) WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol 21:1393-1398
32. Dusel JA, Burdon KP, Hicks PJ, Hawkins GA, Bowden DW, Freedman BI (2005) Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney Int 68:256-262
33. McKenzie LM, Hendrickson SL, Briggs WA, Dart RA, Korbet SM, Morkrzycki MH, Kimmel PL, Ahuja TS, Berns JS, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Cho M, Zhou YC, Binnes-Rommer E, Kirk GD, Kopp JB, Winkler CA (2007) NPHS2 Variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol 18:2987-2995
34. Orloff MS, Iyenger SK, Winkler C, Goddard KA, Dart RA, Ahuja TS, Mokrzycki M, Briggs WA, Korbet SM, Kimmel PL, Simon EE, Trachtman H, Vlahov D, Michel DM, Berns JS, Smith MC, Schelling JR, Sedor JR, Kopp JB (2005) Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol Genomics 21:212-221
35. Chung KW, Ferrel RE, Ellis D, Barmada M, Moritz M, Finegold DN, Jaffe R, Vats A (2003) African American hypertensive nephropathy maps to a new locus on chromosome 9q31-q32. Am J Hum Genet 73:420-429
36. Arbeitsgemeinschaft fur Pädiatrische Nephrologie (1988) Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Lancet 1:380-383
37. Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F (2006) Members of the APN Study group: Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 59:325-331
38. Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, Hildebrandt F (2007) Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol 22:509-513
39. Franceschini N, North KE, Kopp JB, McKenzie L, Winkler C (2006) NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review. Genet Med 8:63-75