Three siblings with steroid-resistant nephrotic syndrome: New NPHS2 mutations in a Turkish family

American Journal of Kidney Diseases

Volumn 44, Issue 2, 2004, Pages

  Ekim, Mesiha ^a,b   Özçakar, Z Birsin ^a   Acar, Banu ^a   Yüksel, Selçuk ^a   Yalçínkaya, Fatoş ^a   Tulunay, Özden ^a   Ensari, Arzu ^a   Erbay, Bülent ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Birlik Mahallesi 5Cadde 67/10   (Turkey)

Author keywords

diffuse mesangial proliferation; focal segmental glomerulosclerosis (FSGS); Nephrotic syndrome (NS); podocin mutations; steroid resistant nephrotic syndrome

Indexed keywords

CYCLOPHOSPHAMIDE; CYCLOSPORIN A; PROTEIN DERIVATIVE; STEROID;

ADOLESCENT; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; IMMUNOFLUORESCENCE; INCIDENCE; LABORATORY TEST; MALE; NEPHROTIC SYNDROME; PHYSICAL EXAMINATION; PODOCYTE; SCHOOL CHILD; SIBLING; STATISTICAL ANALYSIS; TREATMENT FAILURE;

ADOLESCENT; ADRENAL CORTEX HORMONES; AMINO ACID SUBSTITUTION; CHILD; CODON; DRUG RESISTANCE; GENES, RECESSIVE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PERITONEAL DIALYSIS; POINT MUTATION; SIBLINGS; TURKEY;

EID: 3242674580     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2004.04.044     Document Type: Article

References (15)

1. Eddy A.A., Symons J.M. Nephrotic syndrome in childhood. Lancet. 362:2003;629-639
2. Boute N., Gribouval O., Roselli S., et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 24:2000;349-354
3. Caridi G., Berteli 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. 12:2001;2742-2746
4. Karle S.M., Uetz B., Ronner V., et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 13:2002;388-393
5. 2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol. 13:2002;400-405
6. 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, in press
7. Roselli S., Gribouval O., Boute N., et al. Podocin localizes in the kidney to the slit diaphram area. Am J Pathol. 160:2002;131-139
8. Conlon P.T., Lynn K., Winn M.P., et al. Spectrum of disease in familial focal and segmental glomerulosclerosis. Kidney Int. 56:1999;1863-1871
9. Caridi G., Berteli R., Di Duca M., et al. Broadening the spectrum of disease related to podocin mutations. J Am Soc Nephrol. 14:2003;1278-1286
10. Maruyama K., Iijima K., Ikeda M., et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol. 18:2003;412-416
11. Fuchshuber A., Gríbouval O., Ronner V., et al. Clinical and genetic evaluation of familial steroid responsive nephrotic syndrome in childhood. J Am Soc Nephrol. 12:2001;374-378
12. Glicklich D., Haskell L., Senitzer D., Weiss R.A. Possible genetic predisposition to idiopathic focal segmental glomerulosclerosis. Am J Kidney Dis. 12:1988;26-30
13. Winn M.P., Alkhunaizi A.M., Bennett W.M., et al. Focal segmental glomerulosclerosis A need for caution in live related renal transplantation. Am J Kidney Dis. 33:1999;970-974
14. Rana K., Isbel N., Buza M., et al. Clinical, histopathologic and genetic studies in nine families with focal segmental glomerulosclerosis. Am J Kidney Dis. 41:2003;1170-1178
15. Berteli 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. 41:2003;1314-1321