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01-01-2008 | Original Article

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome

Authors: Hee Yeon Cho, Joo Hoon Lee, Hyun Jin Choi, Bum Hee Lee, Il Soo Ha, Yong Choi, Hae Il Cheong

Published in: Pediatric Nephrology | Issue 1/2008

Abstract

Although several genetic causes of steroid-resistant nephrotic syndrome (SRNS) have been identified, occurrence of these genetic abnormalities appears to be influenced by race. Seventy Korean children (39 girls, 31 boys) with SRNS underwent analysis for mutations of WT1 and NPHS2. Although NPHS2 mutations were not present in any of the patients, two different intronic mutations of WT1, IVS9+4 C>T and IVS9+5 G>A, were detected in four patients (three girls, one boy). Among the four patients with mutation, two girls with a karyotype of 46,XY had complete XY gonadal dysgenesis, one girl with a karyotype of 46,XX had normal genitalia, and one boy with a karyotype of 46,XY had hypospadia. A kidney biopsy conducted in three of the four patients revealed focal segmental glomerulosclerosis. The incidence of WT1 mutations observed in this study was similar to that of previous reports. However, the incidence of NPHS2 mutations seems to be very rare in Korean children. Genetic diagnosis of WT1 mutations should be recommended for children with SRNS, especially in cases involving a female phenotype or males with genital anomalies.

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Title: WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome
Authors: Hee Yeon Cho
Joo Hoon Lee
Hyun Jin Choi
Bum Hee Lee
Il Soo Ha
Yong Choi
Hae Il Cheong
Publication date: 01-01-2008
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 1/2008
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0620-1

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Springer Medicine

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome

Abstract

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Springer Medicine

Abstract

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