Mutasi Gen NPHS2 (412C-T,419delG) dan Manifestasi Klinis Sindrom Nedrotik Resisten Steroid Anak Indonesia | Perpustakaan Badan Kebijakan Pembangunan Kesehatan

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

Dedi Rachmadi - Personal Name; Dany Hilmanto - Personal Name; Ponpon Idjradinata - Personal Name; Abdurahman Sukadi - Personal Name;

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 utation, except on serum creatinin in 412C→T mutation. [MKB. 2011;43(4):193–8].

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Location name is not set Majalah Kedokteran Bandung:43(4)2011:193-198

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Series Title: -
Call Number: Majalah Kedokteran Bandung, 43 (4) 2011 : 193-198
Publisher: Bandung : FK. Universitas Padjadjaran., 2011
Collation: 5p.
Language
ISBN/ISSN: 0126-074X
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Content Type: -
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Edition: -
Subject(s): child
nephrotic syndrome
STEROID
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Statement of Responsibility: -

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