A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review

TL;DR

A new NPHS1 gene variant causing congenital nephrotic syndrome is identified in a Chinese infant, highlighting genetic differences between Asian and Finnish populations.

Contribution

Identification of a novel NPHS1 variant in a Chinese patient with congenital nephrotic syndrome and discussion of genetic heterogeneity.

Findings

A novel NPHS1 variant was identified in a Chinese Han neonate with Finnish-type congenital nephrotic syndrome.

The case highlights the genetic heterogeneity of Finnish-type CNF in non-Finnish populations.

The findings suggest broader genetic diversity in NPHS1 variants beyond the two common Finnish mutations.

Abstract

Congenital nephrotic syndrome is a rare autosomal recessive genetic disorder, with the Finnish type caused by NPHS1 variants being the most common. It is characterized by massive proteinuria, hypoalbuminemia, hypercholesterolemia, and edema, ultimately progressing to end-stage renal disease. To date, 260 genetic variants in NPHS1 have been reported, with two variants prevalent in Finnish patients, while non-Finnish populations exhibit greater genetic heterogeneity. This case report describes a Chinese Han female neonate with Finnish-type CNF, highlights the characteristics of her gene variants, and discusses the genetic heterogeneity of Finnish-type CNF between Asian and Finnish populations.

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