WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
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.
Cho
Hee Yeon
HY
Department of Pediatrics, Seoul National University Children's Hospital, 28 Yongon-Dong Chongro-Gu, Seoul 110-744, South Korea.
Lee
Joo Hoon
JH
Choi
Hyun Jin
HJ
Lee
Bum Hee
BH
Ha
Il Soo
IS
Choi
Yong
Y
Cheong
Hae Il
HI
D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics*
D000305:Adrenal Cortex Hormones; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D025721:WT1 Proteins