家族性膜性肾病三家系调查并文献复习

目的 报道我院近期收集的家族性膜性肾病3个家系,结合文献复习并与非家族患者的临床表现和病理改变比较,阐述家族性膜性肾病的特点。方法 选取我院经贤穿刺病理证实的家族性膜性肾病3个家系6例,文献（1969－2000年）报告的16个家系33例,并随机抽取我院同期收治的非家族性膜性肾病30例,对比此3组肾穿刺时患者的临床及病理特点。结果 与文献报告不同的是本组患者男女比例相近,发病年龄较大;的是病理分期均以Ⅱ,Ⅲ期膜性肾病多见;与原发性膜性肾病患者相比,本组病理改变Ⅱ,Ⅲ期者所占比例较多。结论 首次于国内报告家族性膜性肾病,与既往报告的家族性膜性肾病及我科非家族性膜性肾病比较,家族性膜性肾病患者除病理类型相对偏重以外,其他临床表现与非家族性患者相似。家族性膜性肾病的遗传机制目前尚不清楚。加强家系调查,提高临床医师的重视程度,将有助于发现更多的家族性膜性肾病病例。

Familial membranous nephropathy: an analysis of 3 kindreds and literature review

Objective To report three kindreds of familial membranous nephropathy and describe its clinical and pathological characteristics Methods 6 patients with renal biopsy proved familial membranous nephropathy from 3 kindreds were described Their clinical and pathological data were compared with 33 patients who were also suffering from familial membranous nephropathy from 16 kindreds documented in PubMed and 30 sporadic patients who were collected in our hospital with membranous nephropathy Results Compared with the patients documented in the literatures, the patients were older and the ratios of male and female patients in this series were equal In both series, the pathological lesions were severe Compared with sporadic patients with membranous nephropathy, the patients in familial form had severer pathological lesions There were no differences among all patients in clinical manifestations, such as proteinuria, hypertension and renal function The major clinical symptom in familial membranous nephropathy patients was nephritic syndrome Conclusions The present study first reported the kindreds of familial membranous nephropathy in China The clinical manifestations of familial membranous nephropathy in our patients, as well as in other familial cases reported to date, are similar with those in the non familial membranous nephropathy patients, but the pathological changes in the familial cases were severer than those in the non familial To distinguish the familial form from idiopathic membranous nephropathy, it is essential to understand the genetic factors underlying this disease