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Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy

 Yo Han Ahn  ;  Eu Jin Park  ;  Hee Gyung Kang  ;  Seong Heon Kim  ;  Hee Yeon Cho  ;  Jae Il Shin  ;  Joo Hoon Lee  ;  Young Seo Park  ;  Kyo Sun Kim  ;  Il-Soo Ha  ;  Hae Il Cheong 
 PEDIATRIC NEPHROLOGY, Vol.32(1) : 81-89, 2017 
Journal Title
Issue Date
Adolescent ; Child ; Child, Preschool ; Disorders of Sex Development/genetics ; Disorders of Sex Development/pathology ; Drug Resistance ; Female ; Genotype ; Glomerulonephritis/genetics* ; Glomerulonephritis/pathology ; Gonadoblastoma/genetics ; Gonadoblastoma/pathology ; Humans ; Infant ; Infant, Newborn ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/pathology ; Male ; Mutation ; Mutation, Missense ; Nephrotic Syndrome/genetics* ; Nephrotic Syndrome/pathology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Phenotype ; Republic of Korea ; Survival Analysis ; Treatment Outcome ; WT1 Proteins/genetics* ; Wilms Tumor/genetics ; Wilms Tumor/pathology
Diaphragmatic defect ; Disorder of sexual development ; Malignancy ; Steroid-resistant nephrotic syndrome ; WT1 gene
BACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups. RESULTS: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia. CONCLUSIONS: WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
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