摘要
目的 提高对Alport综合征 (AS)的认识 ,评价IV型胶原检测的临床意义。方法 分析2 2个AS家系 2 6例患者的临床病理资料 ,皮肤和肾组织Ⅳ型胶原α链检测采用间接免疫荧光法。结果 2 2个家系以多种遗传方式遗传 ,以X伴性显性 (XD)遗传最多 ,占 5 4 5 %。 2 6例患者平均发病年龄 2 4 9岁 ,92 3%有血尿 ,88 5 %有蛋白尿 ,3例肾病综合征 (NS)均为男性 ,16例患者有肾功能受累 ,发生肾功能衰竭 (肾衰 )平均年龄 2 9 2岁 ,男性明显早于女性。 3/ 19例眼呈前锥形晶体 ,1例有黄斑周围黄白色颗粒沉积。 6 3 6 %有感音性耳聋。肾脏病理检查光镜、免疫荧光 (IF)均无特异性发现 ,电镜示肾小球基底膜 (GBM)呈弥漫厚薄不均、分层改变。 6例肾移植 ,5例存活。 6例男性XD AS患者α5 (IV)链在皮肤和 (或 )肾组织基底膜上IF呈阴性 ,肾组织α3(IV)链IF亦呈阴性 ;3例女性XD AS患者表皮基底膜上α5 (IV)链IF呈不连续沉积。结论 AS是一种比较常见、遗传呈异质性的疾病 ,GBM超微结构改变具特征性 ,而IV型胶原不同α链检测与电镜同样具有重要诊断价值。
Objective To summarize the clinicopathological features of Alport syndrome (AS) and evaluate the diagnostic value of type Ⅳ collagen detection. Methods 26 patients with Alport syndrome belonging to 22 families were studied. Type Ⅳ collagen was detected with indirect immunofluorecent method by using monoclonal antibodies against different chains of type Ⅳ collagen. Results The inheritance mode in the 22 families were different; 12 of the families (54.5%) were inherited with X linked dominant (XD) trait. The mean age of onset in the 26 patients was 24.9 years. 92.3% presented with hematuria. 88.5% had proteinuria with 3 nephrotic syndrome. These 3 patients were all male. Renal impairment was found in 16 patients (mean age of onset 29.2 yrs). 3/19 had anterior lenticonus while pigmentary changes consisting of whitish or yellowish granulation in the perimacular region was only observed in one. 63.6% had sensorineural deafness. Light and immunofluorescent microscopic findings were not specific. With electron microscopy, all specimens revealed various thinning and thickening of glomerular basement membrane (GBM) with coexisting “basket weaving” in one. 6 patients with end stage renal failure had transplantation; 5 had been followed up for 1 to 8 years and the remaining one died. In 6 male patients with XD AS, immunofluorescent study of both α3, 5 chains within GBM and α5 chain within epidermal basement membrane (EBM) was negative. However, there was discontinuous deposition in EBM of 3 female patients with XD AS. Conclusion AS is a generalized heterogenetic inherited disease. Ultrastructual alteration in GBM was characteristic for AS. Immunohistological study of type Ⅳ collagen and electron microscopy are helpful for the diagnosis of AS.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2000年第8期532-535,共4页
Chinese Journal of Internal Medicine
基金
上海市高等学校科技基金
上海市卫生系统百人计划资助
