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WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome
Cited 43 time in
Web of Science
Cited 48 time in Scopus
- Authors
- Issue Date
- 2008
- Publisher
- Springer Verlag
- Citation
- Pediatr Nephrol 23:63-70
- Keywords
- Steroid-resistant nephrotic syndrome ; WT1 gene ; NPHS2 gene ; Mutation ; Frasier 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
https://hdl.handle.net/10371/25664
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