Mutasi Gen NPHS2 (412Câ†’T, 419delG) dan Manifestasi Klinis Sindrom Nefrotik Resisten Steroid Anak Indonesia (Majalah Kedokteran Bandung, 2011)
Sindrom nefrotik resisten steroid (SNRS) karena mutasi gen nephrotic syndrome type 2 (NPHS2) mempunyai manifestasi klinis lebih berat dibandingkan dengan SNRS tanpa mutasi gen. Penelitian ini bertujuan untuk mengetahui mutasi gen NPHS2 (412Câ†’T, 419delG) pada SNRS anak Indonesia dan melihat perbedaan manifestasi klinisnya. Penelitian ini berupa observasional potong silang pada 88 penderita SNRS yang diambil secara consecutive admission dari 10 rumah sakit pendidikan di Indonesia, periode September 2006–Desember2007. Analisis mutasi 412Câ†’T dan 419delG diperiksa dengan polymerase chain reaction. Analisis statistik menggunakan multivariat dan uji chi-square. Dari 88 SNRS didapat 58 (66%) mutasi 412Câ†’T dan 69 (78%) mutasi 419delG. Hasil analisis multivariat variabel interval manifestasi klinis (tekanan darah sistol dan diastol, kadar kreatinin serum, usia serangan pertama, dan pertumbuhan) antara kelompok mutasi gen 412Câ†’T, 419delG dan kelompok tanpa mutasi gen didapatkan masing-masing F=0,316; p=0,902 dan F=0,651; p=0,662. Hasil analisis univariat dari variabel nominal manifestasi klinis sebagai berikut: hematuria, p=0,231(0,726); hipertensi, p=0,286 (0,741); usia serangan pertama, p=0,372 (0,304); pertumbuhan skor Z, p=0,087 (0,595), dan kreatinin serum p=0,049 (0,080). Tidak terdapat perbedaan manifestasi klinis antara penderita SNRS dengan mutasi genNPHS2 (412Câ†’T, 419delG) dan penderita SNRS tanpa mutasi gen, kecuali kadar kreatinin serum pada penderita SNRS dengan mutasi gen 412 Câ†’T. [MKB. 2011;43(4):193–8].Kata kunci: Manifestasi klinis, mutasi gen NPHS2 (412Câ†’T, 419delG), sindrom nefrotik resisten steroid NPHS2 (412 Câ†’T and 419delG) Gene Mutation and Their Clinical Manifestation in Indonesian Steroid-Resistant Nephrotic SyndromeSteroid 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 412Câ†’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 hospitalsin Indonesia during September 2006 to December 2007. Analysis for 412 Câ†’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 Câ†’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 412Câ†’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 412Câ†’T, 419delG mutation and SRNS without mutation, except on serum creatinin in 412Câ†’T mutation. [MKB. 2011;43(4):193–8].Key words: Clinical manifestation, NPHS2 (412Câ†’T, 419delG) gene mutation, steroid resistant nephrotic syndrome DOI: http://dx.doi.org/10.15395/mkb.v43n4.69