Mutasi Gen NPHS2 (412C→T, 419delG) dan Manifestasi Klinis Sindrom Nefrotik Resisten Steroid Anak Indonesia

Abstract

Steroid resistant nephrotic syndrome (SRNS) due to nephrotic syndrome type 2 (NPHS2) gene mutation has more severe clinical manifestation than those without mutation. This study was designed to find NPHS2 gene mutation in 412C→T and 419delG in Indonesian SRNS and to see differences in clinical manifestation. The observational cross sectional study was performed on 88 SRNS. Subjects were taken consecutively from 10 teaching hospitals in Indonesia during September 2006 to December 2007. Analysis for 412 C→T and 419delG mutations were examined by polymerase chain reaction. Multivariate and chi-square-test analysis were used. Of 88 SNRS, 58 (66%) with 412 C→T and 69 (78%) with 419delG mutations. Multivariate analyses for interval variable of clinical manifestations (systolic and diastolic blood pressure, serum creatinin level, age of onset and growth) between SRNS with NPHS2 412C→T, 419delG mutation and SRNS without mutation were F=0.316, p=0.902 and F=0.651, p=0.662, respectively. While univariate analyses for nominal variable of clinical manifestation were as follow: hematuria, p=0.231 (0.726); hypertension, p=0.286 (0.741); age of onset, p=0.372 (0.304); Z-score growth, p=0.087 (0.595) and serum creatinin, p=0.049 (0.08). There is no difference of clinical manifestation between SRNS with NPHS2 412C→T, 419delG mutation and SRNS without mutation, except on serum creatinin in 412C→T mutation.

Keywords

• Clinical manifestation
• NPHS2 (412C→T
• 419delG) gene mutation
• steroid resistant nephrotic syndrome