Heterogenous phenotypes of congenital nephrotic syndrome related to NPHS1 mutation
- Resource Type
- Authors
- Wai Ming Lai; Eugene Yu Hin Chan; Alison Lap Tak Ma; Sze Wa Wong; Liz Yuet Ping Yuen
- Source
- Asian Journal of Pediatric Nephrology. 4:26
- Subject
- Kidney
Mutation
biology
business.industry
Genetic heterogeneity
General Engineering
medicine.disease
Bioinformatics
medicine.disease_cause
Phenotype
Nephrin
medicine.anatomical_structure
Genotype
medicine
biology.protein
business
Congenital nephrotic syndrome
Kidney disease
- Language
- ISSN
- 2589-9309
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.