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

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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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Acknowledgment

This study was supported by a grant (04-2005-064-0) from Seoul National University Hospital and 2004 Handok Research Grant from the Korean Society of Pediatric Nephrology.

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  1. Hee Yeon Cho

    Present address: Department of Pediatrics, Gachon University of Medicine and Science, Gil Medical Center, Incheon, South Korea

  2. Joo Hoon Lee

    Present address: Department of Pediatrics, Department of Pediatrics, Asan Medical Center, Seoul, South Korea

Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, 28 Yongon-Dong Chongro-Gu, Seoul, 110-744, South Korea

    Hyun Jin Choi, Bum Hee Lee, Il Soo Ha, Yong Choi & Hae Il Cheong

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  1. Hee Yeon Cho
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Correspondence to Hae Il Cheong.

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Cho, H.Y., Lee, J.H., Choi, H.J. et al. WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23, 63–70 (2008). https://doi.org/10.1007/s00467-007-0620-1

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