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

Cited 39 time in Web of Science Cited 44 time in Scopus
Authors
Cho, Hee Yeon; Lee, Joo Hoon; Choi, Hyun Jin; Lee, Bum Hee; Ha, Il Soo; Choi, Yong; Cheong, Hae Il
Issue Date
2008
Publisher
Springer Verlag
Citation
Pediatr Nephrol 23:63-70
Keywords
Steroid-resistant nephrotic syndromeWT1 geneNPHS2 geneMutationFrasier syndrome
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.
ISSN
0931-041X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17934764

http://hdl.handle.net/10371/25664
DOI
https://doi.org/10.1007/s00467-007-0620-1
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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