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Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy

Authors :
Ahn, Yo Han
Park, Eu Jin
Kang, Hee Gyung
Kim, Seong Heon
Cho, Hee Yeon
Shin, Jae Il
Lee, Joo Hoon
Park, Young Seo
Kim, Kyo Sun
Ha, Il-Soo
Cheong, Hae Il
Source :
Pediatric Nephrology. January, 2017, Vol. 32 Issue 1, p81, 9 p.
Publication Year :
2017

Abstract

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.<br />Author(s): Yo Han Ahn[sup.1] [sup.2] , Eu Jin Park[sup.1] , Hee Gyung Kang[sup.1] [sup.3] , Seong Heon Kim[sup.4] , Hee Yeon Cho[sup.5] , Jae Il Shin[sup.6] , Joo Hoon Lee[sup.7] [...]

Details

Language :
English
ISSN :
0931041X
Volume :
32
Issue :
1
Database :
Gale General OneFile
Journal :
Pediatric Nephrology
Publication Type :
Academic Journal
Accession number :
edsgcl.471442449
Full Text :
https://doi.org/10.1007/s00467-016-3395-4