Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome

Pediatric Nephrology

Volumn 22, Issue 4, 2007, Pages 509-513

  Gbadegesin, Rasheed ^a   Hinkes, Bernward ^a   Vlangos, Christopher ^a   Mucha, Bettina ^a   Liu, Jinhong ^a   Hopcian, Jeff ^a   Hildebrandt, Friedhelm ^a,b  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Frequently relapsing steroid dependent; Mutation alanalysis; Nephrotic syndrome; Podocin; WT1

Indexed keywords

CYCLOPHOSPHAMIDE; CYCLOSPORIN; GENOMIC DNA; IMMUNOGLOBULIN M; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PODOCIN; STEROID; TACROLIMUS; WT1 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FOCAL GLOMERULOSCLEROSIS; FOLLOW UP; HETEROZYGOSITY; HUMAN; IMMUNOGLOBULIN M NEPHROPATHY; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MINIMAL CHANGE GLOMERULONEPHRITIS; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; ONSET AGE; PRIORITY JOURNAL; RELAPSE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; POLYMERASE CHAIN REACTION; RECURRENCE; STEROIDS; WT1 PROTEINS;

EID: 33847397014     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0377-y     Document Type: Article

References (18)

1. Eddy AA, Symons JM (2003) Nephrotic syndrome in childhood. Lancet 362(9384):629-639
2. Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A (2002) Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13(2):388-393
3. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, 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(3):722-732
4. 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(2):564-570
5. Weber S, Gribouval O, Esquivel EL, Moriniere V, Tete 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(2):571-579
6. 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; Members of the APN Study Group (2006) Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 59(2):325-331
7. Lahdenkari AT, Suvanto M, Kajantie E, Koskimies O, Kestila M, Jalanko H (2005) Clinical features and outcome of childhood minimal change nephrotic syndrome: Is genetics involved? Pediatr Nephrol 20(8):1073-1080
8. Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM (2003) Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14(5):1278-1286
9. Hodson EM, Knight JF, Willis NS, Craig JC (2005) Corticosteroid therapy for nephrotic syndrome in children. Cochrane Database Syst Rev (1):CD001533
10. Ehrich JH, Brodehl J (1993) Long versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Eur J Pediatr 152(4):357-361
11. Schulman SL, Kaiser BA, Polinsky MS, Srinivasan R, Baluarte HJ (1988) Predicting the response to cytotoxic therapy for childhood nephrotic syndrome: Superiority of response to corticosteroid therapy over histopathologic patterns. J Pediatr 113(6):996-1001
12. Maniatis TF, Sambrook J (1987) Molecular cloning: A laboratory manual, 2nd edn. Cold Spring Arbor Laboratory, Plainview
13. Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 71(5):1161-1167
14. 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(2):63-75
15. 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(4):349-354
16. Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Holmberg C, Olsen A, Kestila M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64(1):51-61
17. Horinouchi I, Nakazato H, Kawano T, Iyama K, Furuse A, Arizono K, Machida J, Sakamoto T, Endo F, Hattori S (2003) In situ evaluation of podocin in normal and glomerular diseases. Kidney Int 64(6):2092-2099
18. Patrakka J, Lahdenkari AT, Koskimies O, Holmberg C, Wartiovaara J, Jalanko H (2002) The number of podocyte slit diaphragms is decreased in minimal change nephrotic syndrome. Pediatr Res 52(3):349-355