Table of Contents

HK J Paediatr (New Series)
Vol 21. No. 4, 2016

HK J Paediatr (New Series) 2016;21:294-297

Case Report

Novel NPHS1 Mutations in a Chinese Young Infant with Congenital Nephrotic Syndrome

CH Wang, JH Mao, XL Ma, LP Shi


Background: NPHS1 mutation is one of the major causes of congenital nephrotic syndrome (CNS). Studies have confirmed that approximately one-half of CNS cases are caused by recessive mutations in NPHS1. In China, there have been a few reports of NPHS1 mutation in infants with CNS which indicates NPHS1 may be the causative gene in sporadic Chinese CNS. In this study, NPHS1 mutations in a Chinese family with CNS were detected and analysed. Methods: A five-day-old male infant suffered generalised oedema, proteinuria, hypoproteinaemia, and hypoalbuminaemia. His kidney histology showed characteristics of CNS. Mutation analysis was made of all exons and exon/intron boundaries of NPHS1 in the infant and his parents using polymerase chain reaction and direct DNA sequencing. Results: Two compound heterozygous mutations, including 1019C>T (P340L) in exon 9 and 3478C>T (R1160Stop) in exon 27, were identified in the infant with CNS. Only 1019C>T (P340L) was identified in mother and 3478C>T (R1160Stop) in father respectively. Conclusions: These findings reconfirm that NPHS1 gene mutations also present in sporadic Chinese CNS cases. Genetic studies of NPHS1 gene should be performed in young infant with CNS for genetic counselling.

Keyword : Congenital nephrotic syndrome; Mutation; NPHS1 gene

Abstract in Chinese


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