关键词: 先天性肾病综合征；　NPHS1基因；　全外显子家系检测

Abstract: 　Objective　To explore the clinical and gene mutation characteristics of congenital nephrotic syndrome caused by NPHS1 gene mutation. Methods　The clinical characteristics of congenital nephrotic syndrome caused by mutation of NPHS1 gene in 2 children were retrospectively analyzed, and the related literature was reviewed. Results　The age at onset was 3 months after birth in both girls who presented nephrotic syndrome without family history of renal disease. The whole exon detection was performed in all the children and their parents and both girls had NPHS1 gene complex heterozygous mutation. In case 1, c.2629_c.2630 delAAinsT (exon 19) was from her father and c.1315+1 (IVS 10) G > A was from her mother, and the two mutations have not been reported in the literature. In Case 2, c.2205 (exon16) _c.2206insTGGAC (exon16) was from her mother, but no report was found; C. 3478C >T (exon27) was from her father, which has been reported in the literature. According to the ACMG score, c.1315+1 (IVS10) G>A, c.2205 (exon 16)_c.2206 insTGGAC (exon 16), c.3478C > T (exon 27) were all pathogenic, and c.2629_c.2630 del AAinsT (exon 19) was possibly pathogenic. Conclusion　Children with congenital nephrotic syudrome should be considered for NPHS1 gene testing.

Key words: 王筱雯　电子信箱：xiaowenwang331@163.com