The gene mutation in one neonate with Finnish type congenital nephrotic syndrome
10.3969/j.issn.1000-3606.2016.03.007
- VernacularTitle:新生儿芬兰型先天性肾病综合征1例基因突变类型
- Author:
Rui ZHANG
;
Wenli ZHOU
;
Longxia XU
;
Ying LIU
- Publication Type:Journal Article
- Keywords:
congenital nephrotic syndrome;
gene mutation;
neonate
- From:
Journal of Clinical Pediatrics
2016;34(3):185-187
- CountryChina
- Language:Chinese
-
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.
