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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

PEDRAZA G, NEDIER; CEBALLOS O, MARÍA LUISA  y  CANO SCH, FRANCISCO. Corticoresistant Nephrotic Syndrome secondary to genetic mutation, 2 Case-report. Rev. chil. pediatr. [online]. 2008, vol.79, n.4, pp. 398-403. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062008000400008.

Background: Around 10-30% patients with Corticoresistant Nephrotic Syndrome (CRNS) have hereditary glomerulopathy. Objective: Describe 2 children with CRNS on chronic peritoneal dyalisis (CPD), with positive Podocin mutation genetic study. Case-report 1: A 4 years-old male with CRNS and diagnosis of focal segmental glomerulosclerosis (FSGS) at renal biopsy, with positive R 229Q and A 284V Podocin mutation genetic study. The treatment included Enalapril, steroids and Cyclophosphamide without remission, requiring CPD at 12 years-old. Case-report 2: A 6 years-old female with CRNS and diagnosis of focal segmental glomerulosclerosis (FSGS) at renal biopsy, with positive R 229Q and A 284V Podocin mutation genetic study. The treatment included Enalapril, steroids and Cyclophosphamide without remission, requiring CPD at 7 years-old. Conclusión: The genetic mutation study should be included in all CRNS cases, in order to guide the therapy and prognosis of the disease

Palabras clave : Corticoresistant Nephrotic Syndrome; podocin; 4 á-actinin; A284V mutation; R229Q mutation.

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