The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report/ Importanţa testării genetice la adolescenţii cu sindrom nefrotic corticorezistent – Prezentări de caz

1. Eddy AA, Symons JM. Nephrotic syndrome in childhood. Lancet. 2003 Aug;362(9384):629-39 DOI: 10.1016/S0140-6736(03)14184-010.1016/S0140-6736(03)14184-0Search in Google Scholar

2. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol. 2004 Mar;15(3):722-32 DOI: 10.1097/01. ASN.0000113552.59155.7210.1097/01Search in Google Scholar

3. Mekahli D, Liutkus A, Ranchin B, Yu A, Bessenay L, Girardin E, et al. Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study. Pediatr Nephrol. 2009 Aug;24(28):1525-32 DOI: 10.1007/s00467-009-1138-510.1007/s00467-009-1138-519280229Search in Google Scholar

4. Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, et al. NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2013 May;28(5):751-7 DOI: 10.1007/s00467-012-2379-210.1007/s00467-012-2379-223242530Search in Google Scholar

5. Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tete MJ, et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008 Oct;19(10):1871-8 DOI: 10.1681/ASN.200801005910.1681/ASN.2008010059255157218614772Search in Google Scholar

6. Santin S, Bullich G, Tazon-Vega B, Garcia-Maset R, Gimenez I, Silva I, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011 May;6(5):1139-48 DOI: 10.2215/CJN.0526061010.2215/CJN.05260610308778121415313Search in Google Scholar

7. Ehrich JH, Geerlings C, Zivicnjak M, Franke D, Geerlings H, Gellermann J. Steroidresistant idiopathic childhood nephrosis: overdiagnosed and undertreated. Nephrol Dial Transplant. 2007 Aug;22(8):2183-93 DOI: 10.1093/ndt/gfm09210.1093/ndt/gfm09217504846Search in Google Scholar

8. Benoit G, Machuca E, Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol. 2010 Sep;25(3):1621-32 DOI: 10.1007/s00467-010-1495-010.1007/s00467-010-1495-0290844420333530Search in Google Scholar

9. Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, et al. Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations. Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62 DOI: 10.2215/CJN.0935120910.2215/CJN.09351209297440820595692Search in Google Scholar

10. Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, et al. Specific podocin mutations correlate with age of onset in steroidresistant nephrotic syndrome. J Am Soc Nephrol. 2008 Feb;19(2):365-71 DOI: 10.1681/ASN.200704045210.1681/ASN.2007040452239674918216321Search in Google Scholar

11. Hoyer PF, Vester U, Becker JU. Steroid-Resistant Nephrotic Syndrome. In: Schaefer F, Geary DF, Comprehensive Pediatric Nephrology, Mosby Inc., Philadelphia, 2008;257-67 DOI: 10.1016/B978-0-323-04883-5.50022-210.1016/B978-0-323-04883-5.50022-2Search in Google Scholar

12. Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010 Nov;5(11):2075-84 DOI: 10.2215/CJN.0119021010.2215/CJN.01190210300177320798252Search in Google Scholar

13. Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, et al. Mutations in the Wilms’ tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res. 2006 Feb;59(2):325-31 DOI: 10.1203/01. pdr.0000196717.94518.f0Search in Google Scholar

14. Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, et al. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome Kidney Int. 2004 Aug;66(2):564-70 DOI: 10.1111/j.1523-1755.2004.00775.x10.1111/j.1523-1755.2004.00775.x15253707Search in Google Scholar

15. Weber S, Gribouval O, Esquivel EL, Moriniere V, Tete MJ, Legendre C, Niaudet et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 2004 Aug;66(2):571-9 DOI: 10.1111/j.1523-1755.2004.00776.x10.1111/j.1523-1755.2004.00776.x15253708Search in Google Scholar

16. Loirat C, André JL, Champigneulle J, Acquaviva C, Chantereau D, Bourquard R, et al. WT1 splice site mutation in a 46,XX female with minimal-change nephrot ic syndrome and Wilms’ tumour. Nephrol Dial Transplant. 2003 Apr;18(4):823-5 DOI: 10.1093/ndt/gfg04110.1093/ndt/gfg04112637656Search in Google Scholar

17. Rood IM, Deegens JKJ, Wetzels JFM. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant. 2012 Mar;27(3):882-90 DOI: 10.1093/ndt/gfr77110.1093/ndt/gfr77122334613Search in Google Scholar

18. Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, et al. Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int. 2014May;85(5):1169-78 DOI: 10.1038/ki.2013.519 10.1038/ki.2013.51924402088Search in Google Scholar