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Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy
- 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