先天性肾病综合征芬兰型1例基因突变报告并文献复习

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

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。

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.