关键词: 先天性肾病综合征；　NPHS1基因；　基因突变

Abstract: 　Objective　To explore the clinical manifestations of congenital nephrotic syndrome Finnish type (CNF) and the type of mutations in NPHS1 gene. Method　The clinical characteristics, NPHS1 gene test results of CNF in a child and his parents were retrospectively analyzed, and the related literature was reviewed. Results　A boy was born prematurely at 34 weeks of gestational age, and showed clinical manifestations of nephrotic syndrome immediately after birth. All serological examinations were negative, and there was no family history. NPHS1 gene mutations, C. 741G > A, P. (Trp247*) and C. 928G > A, P. (Asp310Asn), were found and the infant was diagnosed with CNF. Among them, C. 741G > A, P. (Trp247*) has not been reported at home and abroad. Conclusion　The newly found C. 741G > A nonsense mutation enriches the mutation spectrum of NPHS1 gene.

Key words: 　congenital nephrotic syndrome;　NPHS1 gene;　gene mutation