Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

Pediatric Nephrology

Volumn 21, Issue 8, 2006, Pages 1093-1096

  Özçakar, Z Birsin ^a   Cengiz, F Başak ^a   Çakar, Nilgün ^b   Uncu, Nermin ^b   Kara, Nazli ^b   Acar, Banu ^a   Yüksel, Selçuk ^a   Ekim, Mesiha ^a   Tekin, Mustafa ^b   Yalçinkaya, Fatoş ^a,c  

^a ANKARA UNIVERSITY   (Turkey)

^b MINISTRY OF HEALTH   (Turkey)

^c NONE   (Turkey)

Author keywords

Nephrotic syndrome; NPHS2 mutations; Podocin; Steroid resistant nephrotic syndrome; Turkish

Indexed keywords

CYCLOPHOSPHAMIDE; CYCLOSPORIN A; MEMBRANE PROTEIN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PODOCIN; PREDNISONE; PROTEIN NPSH2; STEROID; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; DNA EXTRACTION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INCIDENCE; INFANT; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; NEPHROTIC SYNDROME; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STEROID THERAPY; TURKEY (REPUBLIC);

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DRUG RESISTANCE; FEMALE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; TURKEY;

EID: 33746145940     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0116-4     Document Type: Article

References (15)

1. Niaudet P (2004) Steroid-resistant idiopathic nephrotic syndrome in children. In: Avner ED, Harmon WE, Niaudet P (eds) Pediatric Nephrology. Lippincott Williams & Wilkins, Philadelphia, pp 557-573
2. Pollak MR (2003) The genetic basis of FSGS and steroid resistant nephrosis. Semin Nephrol 23:141-146
3. 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
4. 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 13:388-393
5. Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM (2001) Prevalence, genetics and clinical features of patients carrying podocin mutations in steroid resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12:2742-2746
6. 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, Bakkaloǧlu 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
7. 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 66:571-579
8. 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
9. Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemuro O, Satamura K, Honda M, Yoshikawa N (2003) NPHS2 mutations in sporadic steroid- resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 18:412-416
10. Caridi G, Berdeli A, Dagnino M, Di Duca M, Mir S, Cura A, Ravazzalo R, Ghiggeri GM (2004) Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin. Am J Kidney Dis 43:727-732
11. Ekim M, Özçakar ZB, Acar B, Yudie;ksel S, Yalçinkaya F, Tulunay Ö, Ensari A, Erbay B (2004) Three siblings with steroid-resistant nephrotic syndrome: New NPHS2 mutations in a Turkish family. Am J Kidney Dis 44:E22-E24
12. International Study of Kidney Disease in Children (1981) The primary nephrotic syndrome in children. Identification of patients with minimal change nephrotic syndrome from initial response to prednisone. A report of the International Study of Kidney Disease in Children. J Pediatr 98:561-564
13. 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
14. 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 disease related to podocin mutations. J Am Soc Nephrol 14:1278-1286
15. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scombler P (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:379-388