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- Title
Heterogenous Phenotypes of Congenital Nephrotic Syndrome Related to NPHS1 Mutation.
- Authors
Sze Wa Wong; Yu Hin Chan, Eugene; Lap Tak Ma, Alison; Liz Yuet Ping Yuen; Wai Ming Lai
- Abstract
We report the heterogeneous outcomes in congenital nephrotic syndrome (CNS) secondary to variants in NPHS1 gene. We retrospectively reviewed the records of all patients with genetically confirmed NPHS1-related CNS who presented to one center between 2000 and 2018. Four patients from three families were identified. Three progressed to kidney failure at 2-10 years and required kidney replacement therapy. Two patients with Arg1160Ter NPHS1 variant had slow disease progression, with one reaching only stage 2 chronic kidney disease in early adulthood. This report shows the phenotypic heterogeneity in CNS with NPSH1 variants indicating that genotype/phenotype correlations in NPHS1-related CNS are poor.
- Subjects
NEPHROTIC syndrome in children; GENETIC mutation; PHENOTYPES; DISEASE progression; NEPHRIN
- Publication
Asian Journal of Pediatric Nephrology, 2021, Vol 4, Issue 1, p26
- ISSN
2589-9309
- Publication type
Article
- DOI
10.4103/AJPN.AJPN_18_20