Asian Journal of Pediatric Nephrology

BRIEF REPORT
Year
: 2021  |  Volume : 4  |  Issue : 1  |  Page : 26--29

Heterogenous phenotypes of congenital nephrotic syndrome related to NPHS1 mutation


Sze Wa Wong1, Eugene Yu Hin Chan2, Alison Lap Tak Ma2, Liz Yuet Ping Yuen3, Wai Ming Lai2 
1 Paediatric Nephrology Centre, Hong Kong Children's Hospital; Department of Paediatric and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China
2 Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong, China
3 Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China

Correspondence Address:
Sze Wa Wong
Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong
China

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.


How to cite this article:
Wong SW, Hin Chan EY, Tak Ma AL, Ping Yuen LY, Lai WM. Heterogenous phenotypes of congenital nephrotic syndrome related to NPHS1 mutation.Asian J Pediatr Nephrol 2021;4:26-29


How to cite this URL:
Wong SW, Hin Chan EY, Tak Ma AL, Ping Yuen LY, Lai WM. Heterogenous phenotypes of congenital nephrotic syndrome related to NPHS1 mutation. Asian J Pediatr Nephrol [serial online] 2021 [cited 2022 Aug 18 ];4:26-29
Available from: https://www.ajpn-online.org/article.asp?issn=2589-9309;year=2021;volume=4;issue=1;spage=26;epage=29;aulast=Wong;type=0