A familial steroid-responsive nephrotic syndrome report / 中华肾脏病杂志

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.