胶原Ⅲ肾小球病家系报道  

Report of a pedigree of collagen type Ⅲ glomerulopathy

作　　者：陈楠[1] 徐耀文[1] 潘晓霞[1] 王朝晖[1] 史浩[1] 严富洪[1] 董晓蓓[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾内科,200025

出　　处：《中华肾脏病杂志》2005年第11期645-648,共4页Chinese Journal of Nephrology

基　　金：上海市重点学科建设项目(T0201)上海市卫生局医学领先专业(983009)上海市百名跨世纪优秀学科带头人培养计划(百人计划)(98BR034)上海市青年科技启明星培养计划(03QD14021)上海市卫生局优秀青年医学人才培养计划

摘　　要：目的了解胶原Ⅲ肾小球病临床表现、病理特点和遗传方式。方法总结分析2例通过肾脏病理确诊为胶原Ⅲ肾小球病的同胞兄弟临床、病理资料以及家系调查结果。结果2例患者分别为33、34岁男性,发病时为32、31岁,临床均表现为大量蛋白尿(1例为肾病综合征)、高血压、肾功能不全(Scr分别为128、313μmol/L),均有左心室肥厚。无血尿、骨骼改变和其他肾外体征。血浆前胶原Ⅲ浓度均异常增高(>50ng/L)。光镜均表现为系膜区明显增宽,肾小球基底膜(GBM)增厚,部分呈假双轨改变,免疫荧光均为阴性。电镜下GBM弥漫增厚,内皮细胞侧及系膜区可见大量粗大的平行排列成束胶原纤维沉积,直径在60～100nm之间。Ⅲ型胶原免疫荧光均为强阳性,沿GBM和系膜区沉积。家系调查显示该同胞兄弟父母为近亲婚配,其同胞妹妹无临床肾脏改变,但其血浆前胶原Ⅲ同样显著升高(>50ng/L)。结论家族性胶原Ⅲ肾病罕见,家系调查符合常染色体隐性遗传方式,国内目前尚无胶原Ⅲ肾小球病家系报道。Objective To summarize the clinical, pathological features and inheritance mode of familial collagen type Ⅲ glomerulopathy. Methods The clinical manifestations and pathological findings of 2 affected brothers and their family information were collected. Results Two affected brothers, one was 33-year old and the other was 34-year old. Both of them had great amount of protein excretion in urine （3.1 g, 6.38 g respectively）, and one of them had nephrotic syndrome. Both presented hypertension and renal insufficiency （serum creatinine 128μmol/L, 313μmol/L respectively）. Neither hematuria nor abnormalities of nail and bone was found. Their serum concentrations of procollagen Ⅲ peptide were elevated （〉50 ng/L）. Renal biopsy revealed that massive huddle fibrils were deposited in mesangium and glomerular basement membrane subendothelial area by electron microscopy. Strong staining of type Ⅲ collagen was observed in the mesangial area and along the glomerular capillary loops. Family survey showed their parents＇ marriage was consanguineous. The concentration of procollagen Ⅲ peptide was also obviously elevated （〉50 ng/L） in their younger sister hut no proteinuria, hematuria, nor hypertension was detected and her renal function was normal. Conclusion Familial collagen type Ⅲ glomerulopathy is rare. Our findings supported an autosomal recessive pattern of inheritance. It is the first familial case reported in Chinese population.

关 键 词：肾炎 遗传性 胶原Ⅲ肾小球病 前胶原Ⅲ 

分 类 号：R692.6[医药卫生—泌尿科学]