胶原Ⅲ肾小球病4例家系分析  

Collagen type Ⅲ glomerulopathy:a four-case analysis and review of the literature

作　　者：章晓炎[1] 潘晓霞[1] 王朝晖[1] 谢静远[1] 徐静[1] 徐耀文[1] 吴珮[1] 沈平雁[1] 史浩[1] 严富洪[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海200025

出　　处：《中国实用内科杂志》2014年第3期267-272,共6页Chinese Journal of Practical Internal Medicine

基　　金：国家重点基础研究发展计划(2012CB517604);十二五"国家科技支撑计划项目"(2011BAI10B06);国家自然科学基金(81000295;81170634);国家临床重点专科建设项目

摘　　要：目的探讨胶原Ⅲ肾小球病的临床病理表现、遗传特点及预后特征。方法回顾性分析2003--2013年上海交通大学医学院附属瑞金医院经过病理确诊为胶原Ⅲ肾小球病4例患者的临床表现、实验室检查及家系调查结果、病理特征及治疗和随访情况。结果入选4例患者为青年期起病（22～36岁），男性2例，女性2例。4例患者分别来自3个家庭，其中2例男性患者为兄弟（家庭1），其父母为近亲婚配；另2例女性患者中，其中1例患者父母也为近亲婚配（家庭2），另1例女性患者家庭中无近亲婚配史（家庭3）。所有患者均以水肿、大量蛋白尿为首发症状，3例伴有高血压，血尿不明显，起病时两兄弟均已出现不同程度的肾功能不全，另2例女性患者起病及随访期间肾功能未出现明显受累。2例男性患者合并左心室肥厚。家庭1包括2例患者在内的部分家庭成员血清胶原Ⅲ前肽显著升高，家庭2和3中则以血清透明质酸升高为特点。光镜下肾小球体积均增大，系膜区增宽，肾小球基膜弥漫增厚。家庭3的女性患者免疫荧光皆为阳性，其余3例患者免疫荧光IgA、IgG、IgM、C3、C4、Clq、Fn均阴性。所有患者胶原Ⅲ染色均为阳性。电镜显示肾小球基膜弥漫增厚，肾小球基膜内及系膜区可见大量平行排列成束的胶原纤维沉积（纤维直径60～100nm）。家庭1中两兄弟疾病进展快，发病3年左右进入ESRD，其中弟弟曾给予激素治疗但效果差，哥哥未经正规治疗，发生ESRD2年后死亡。1例女性患者（家庭2）予以血管紧张素转换酶抑制剂（ARB）治疗，另1例（家庭3）给予激素联合免疫抑制剂治疗，两者尿蛋白、肾功能均未见明显改善。结论水肿、大量蛋白尿、高血压及进行性肾功能衰竭是胶原Ⅲ肾小球病的主要临床特征，诊断主要依靠肾组织胶原Ⅲ免疫荧光检测及电镜，遗传方式符合常染�Objective To investigate the clinicopathologilcal features, inheritance mode and prognosis of collagen type Ⅲ glomerulopathy. Methods A retrospective analysis was carried out on 4 cases with collagen type m glomerulopathy proved by immunofluorescence and electron microscopy. Their clinical manifestations, laboratory and pathological findings, family information and follow-up data were collected. Results There were 2 males and 2 females aged from 22 to 36 years old at the onset of disease. Four patients, from three families, were Han Chinese. Two males were brothers from one family with consanguineous parents （ family 1 ）, one female＇s parents were also consanguineous （ family 2 ） while the other one＇s were not （family 3 ）. The onset clinical symptoms were edema and great amount of proteinuria,3 cases with hypertension and no obvious hematuria was found. Both of the brothers had renal insufficiency at the onset of disease, while 2 females＇ renal function remained normal during following up. Both of the brothers had left ventricular hypertrophy. We further found that some members of family 1 ,including the 2 patients had significant elevated serum P m P levels whereas members from family 2 and 3 had increased serum hyaluronic acid levels. By light microscopy, we found the enlarged glomeruli, broadened mesang- ial area, and diffusely thickened glomerular basement membrane （GBM）. Immunofluorescence test showed no staining of IgA, IgG, IgM, C3, CA, C1 q, or fibrinogen in 3 patients while the female patient from family 3 had a full-house pattern of im- mune deposits. All specimens were observed with the deposition of anti- type Ⅲ collagen antibody in glomeruli. Electron mi- croscopy showed diffusely thickened GBM and a great amount of collagen deposition in the GBM and mesangial area （ fibrils of 60 - 100 nm in diameter）. Both of the brothers from family 1 progressed into end-stage renal disease （ESRD） in 3 years. The younger brother was treated with predinisone while the eider brother

关 键 词：胶原Ⅲ肾小球病 遗传 蛋白尿 肾活检 

分 类 号：R692.6[医药卫生—泌尿科学]