CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1632898
This article is part of the Research TopicDisparities in Nephrotic Syndrome OutcomesView all 4 articles
A Novel NPHS1 variant in a Chinese Infant with Congenital Nephrotic Syndrome: A Case Report and Literature Review
Provisionally accepted
- Women's and Children's Medical Centre (Group), Dalian, China
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Congenital nephrotic syndrome (CNS) is a rare autosomal recessive genetic disorder, with the Finnish type caused by NPHS1 variants being the most common.It characteristic for massive proteinuria,hypoalbuminemia, hypercholester olemia, and edema, ultimately progressing to end-stage renal disease (ESRD). 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 congenital nephrotic syndrome, illustrates the characteristics of her gene variants, and discusses the genetic heterogeneity of Finnish-type congenital nephrotic syndrome between Asian and Finnish populations.
Keywords: Congenital nephrotic syndrome (CNF), NPHS1, finnish type, Chinese, asian
Received: 21 May 2025; Accepted: 09 Sep 2025.
Copyright: © 2025 wei, Xian and min. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Cheng Xian, Women's and Children's Medical Centre (Group), Dalian, China
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