家族性激素反应性肾病综合征一家系报告及文献复习  

A familial steroid-responsive nephrotic syndrome report

作　　者：陈育青[1] 张宏[1] 吕继成[1] 周扬[1] 王海燕[1] 

机构地区：[1]北京大学第一医院肾内科,100034

出　　处：《中华肾脏病杂志》2003年第6期378-380,共3页Chinese Journal of Nephrology

基　　金：首都医学发展科研基金(ZD199910)

摘　　要：目的 报道家族性激素反应性肾病综合征,分析其临床病理特点及家族发病的特点,及其与NPHS2基因的关系。方法 分析患者临床及病理表现特点,并对其家族成员患病情况进行调查;与文献报告的家族性激素反应性肾病综合征对比。运用高效液相色谱(DHPLC)的方法检测该家系NPHS2基因突变。结果 该家族的患病情况符合文献报告的家族性激素反应性肾病综合征的定义,临床表现为肾病综合征,病理改变为肾小球微小病变,对足量的强的松治疗反应敏感,易复发,但发病年龄较国际上报道的中位年龄高。同国外同类报道一样,该家族中未发现NPHS2突变。结论 首次在国内报告家族激素反应性肾病综合征。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.

关 键 词：家族性激素反应性肾病综合征 家系报告 文献复习 高效液相色谱 

分 类 号：R692[医药卫生—泌尿科学]