胶原Ⅲ肾小球病家系报道

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、313 μmol／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（＞50 ng／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60～100 ｎｍ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（＞50 ng／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。

Report of a pedigree of collagen type Ⅲ glomerulopathy

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, 313 μmol/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 buddle 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 but 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.