先天性肾病综合征芬兰型1例基因突变报告并文献复习

目的探讨先天性肾病综合征芬兰型(CNF)的临床表现及NPHS1基因突变类型。方法回顾分析1例CNF患儿的临床特点、患儿和父母NPHS1基因检测结果,并复习相关文献。结果患儿男性,34周早产,出生后即发病,临床表现为肾病综合征,血清病原学检查均为阴性,无家族史。患儿存在NPHS1基因突变c.741G>A,p(.Trp 247^*),c.928G>A,p(.Asp 310 Asn),确诊为CNF。其中c.741G>A,p(.Trp 247^*),国内外均未见报道。结论新发现c.741G>A无义突变,丰富了NPHS1基因的突变谱。

Genetic mutation in congenital nephrotic syndrome Finnish type: a case report and literature review

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.