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

Heterogenous phenotypes of congenital nephrotic syndrome related to NPHS1 mutation

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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AJPN.AJPN_18_20

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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.

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