Resumen

AZOCAR P, MARTA. Inheritance Genetics of Nephrotic Syndrome. Rev. chil. pediatr. [online]. 2011, vol.82, n.1, pp. 12-20. ISSN 0370-4106.  doi: 10.4067/S0370-41062011000100002.

Steroid-Resistant Nephrotic Syndrome (SRNS) is found in approximately 20% of patients with Nephrotic Syndrome (NS). Podocyte-gen mutations are diagnosed in a half of these children. Nephrin (NPHS1), podocin (NPHS2) and Wilms tumor suppressor gene (WT1) are the most frequently founded mutations. These patients usually progress to End Stage Renal Disease (ESRD). Objective: Current concepts in genetic diagnostic of NS in pediatrics are presented. A local experience is analyzed. In Chilean pediatric patients with SRNS, a mutational analysis of the NPHSl and NPHS2 gene was carried out by direct sequencing of the coding regions following polymerase chain reaction (PCR) amplification of genomic leukocyte DNA with flanking intronic primers. For WTl (exon 8 and exon 9), PCR of these fragments were done. Thirty-three patients were included, 17 males, 11,1 ± 6.8 years. 54% of them developed ESRD, 12 patients were transplanted at the time of the analysis, 5 were under dialysis therapy, and 16 children correspond to ESRD Stage 3 and 4. Genetic analysis showed a gen mutation in 9 patients, NPHSl in 3 and NPHS2 in 6 of them. All genetic NS patients were cyclosporine-resistant. Post transplant relapse of NS was lower in genetic patients (p < 0.05). Conclusion: SRNS in children should be always evaluated from a genetic approach in order to avoid long-term immunosuppression, and to anticipate a clinical evolution after kidney transplantation.

Palabras clave : Nephrotic syndrome; genetics; mutation; nephrin; NPHS1; podocyn; NPHS2.