新生儿芬兰型先天性肾病综合征1例基因突变类型

The gene mutation in one neonate with Finnish type congenital nephrotic syndrome

目的探讨芬兰型先天性肾病综合征(CNF)患儿的NPHS1基因突变类型。方法回顾分析1例CNF患儿的临床资料,以及患儿及其父母的NPHS1基因检测结果。结果男性新生儿,34周早产,出生后呼吸困难,出生第3天出现尿糖、尿蛋白、血尿,临床确诊为先天性肾病综合征。患儿NPHS1基因出现2个杂合突变:c.1699?>?C,p.(Cys567Arg);c.3523_3524de1TT,p.(Leu1175Valfs)。其父亲携带c.1699?>?C,p.(Cys567Arg)杂合突变,母亲携带c.3523_3524de1TT,p.(Leu1175Valfs)杂合突变。结论 NPHS1基因的c.1699?>?C,p.(Cys567Arg);c.3523_3524de1TT,p.(Leu1175Valfs)突变可能引起CNF,其中c.1 699?>?C,p.(Cys567Arg)国内外未见报道。

Objective To investigate the NPHS1 gene mutations in Finnish type congenital nephrotic syndrome (CNF). Methods Clinical data of one neonate with CNF and the results of NPHS1 gene detection in the neonate and his parents were retrospectively analyzed. Results The male neonate who was born at gestational age of 34 weeks presented with breathing difficulties after birth, and then glycosuria, proteinuria, and hematuria at 3 days of age. The CNF was clinically diagnosed. The neonate carried two heterozygous mutations in NPHS1 gene, c.1699?>?C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs). His father carried the heterozygous mutations of c.1699?>?C, p.(Cys567Arg). His mother carried the heterozygous mutations of c.3523_3524de1TT, p.(Leu1175Valfs). Conclusions The NHPSI gene mutation of c.1699?>?C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs) may cause CNF. The mutation of c.1699?>?C, P. (Cys567Arg) has not been reported at home and abroad.