围产新生儿疾病专栏

新生儿芬兰型先天性肾病综合征1 例基因突变类型

  • 徐龙霞 ,
  • 张芮 ,
  • 周文莉 ,
  • 刘英
展开
  • 吉林大学第一临床医院新生儿科(吉林长春 130021)

收稿日期: 2016-03-15

  网络出版日期: 2016-03-15

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

  • XU Longxia ,
  • ZHANG Rui ,
  • ZHOU Wenli ,
  • LIU Ying
Expand
  • Department of Neonatology, The First Clinical Hospital of Jilin University, Changchun 130021, Jilin, China

Received date: 2016-03-15

  Online published: 2016-03-15

摘要

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。

本文引用格式

徐龙霞 , 张芮 , 周文莉 , 刘英 . 新生儿芬兰型先天性肾病综合征1 例基因突变类型[J]. 临床儿科杂志, 2016 , 34(3) : 185 . DOI: 10.3969 j.issn.1000-3606.2016.03.007

Abstract

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.
文章导航

/