A familial steroid-responsive nephrotic syndrome report
- VernacularTitle:家族性激素反应性肾病综合征一家系报告及文献复习
- Author:
Yuqing CHEN
;
Hong ZHANG
;
Jichen LU
;
Yang ZHOU
;
Haiyan WANG
- Publication Type:Journal Article
- Keywords:
Familial steroid responsive idiopathic nephrotic syndrome;
NPHS2 gene
- From:
Chinese Journal of Nephrology
1997;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report a familial steroid responsive idiopathic nephrotic syndrome,describe the clinic and pathologic features of the family and screen the potential mutations of NPHS2 in the kindred. Methods Clinopathological data of the family members were collected(including patients) . The reports on familial steroid responsive idiopathic nephrotic syndrome were reviewed. The characteristics were compared between them. NPHS2 mutation was screened through DHPLC for the patients. Resutts There were two brothers with steroid responsive nephrotic syndrome in this family,and the renal pathology was minimal change disease. One of them had massive proteinuria and hypertension,whose renal biopsy showed mild mesangial proliferative nephritis. In this family,any mutation in NPHS2 gene was not found as it was reported in other populations. Conclusions The present study is the first report of familial steroid responsive idiopathic nephrotic syndrome in Chinese population. No relationship between the disease and NPHS2 gene mutation in this family is found.
