摘要
为了观察Ⅳ型胶原各链在Alport综合征(AS)患者基底膜上分布,初步探讨AS的发病机制,评估间接免疫荧光法检测Ⅳ型胶原对AS的诊断价值,采用针对Ⅳ型胶原α1、3、4、5链NC1片段的特异性单克隆抗体,利用间接免疫荧光技术对Ⅳ型胶原在8例Alport患者的肾(6例)及皮肤(5例)基底膜上的分布进行了检测。结果显示:4例X伴性显性(XD)遗传男性Alport患者肾小球基底膜上有α3、4、5(Ⅳ)链共同缺失,表皮基底膜上α5(Ⅳ)链间接免疫荧光亦为阴性,而3例常染色体显性及1例常染色体隐性遗传的Alport患者间接免疫荧光均为阳性,与正常结果相同。提示AS存在Ⅳ型胶原生化组成异常,XD-AS的发病与Ⅳ型胶原α5链的生成异常有关;皮肤及肾组织Ⅳ型胶原α链间接免疫荧光检测对XD-AS具重要诊断意义。
To observe the distribution of type Ⅳ collagen chains within basement membrane in patients with Alport syndrome (AS), discuss the pathogenesis of AS and assess the diagnostic value of indirect immunoflurescent study of type Ⅳ collagen chains. By using indirect immunofluorescence technique, the distribution of different chains of type Ⅳ collagen in speciment of renal (6 specimens) and skin (5 specimens) basement membrane of 8 AS patients belonging to 7 kindreds were investigated. In 4 male patients with Xlinked dominant (XD) AS, the specific monoclonal antibodies against NC1 domains of the α 3, α4 and α 5 chains of type Ⅳ collagen failed to localize on glomerular basement membrane (GBM) and the α 5 chain of type Ⅳ collagen were also absent in the epidermal basement membrane (EBM). The results of immunofluorescent study were positive in 3 autosomal dominant and 1 autosomal recessive AS patients as same as that in control. AS presents a biochemical abnormality of type Ⅳ collagen. The pathogenesis of XDAS may associate with the abnormal products of α 5 chain. The immunofluorescent study of type Ⅳ collagen chains distribution within GBM and EBM by using monoclonal antibodies is useful in confirming the diagnosis of AS, especially XDAS.
出处
《中华内科杂志》
CAS
CSCD
北大核心
1997年第12期812-815,共4页
Chinese Journal of Internal Medicine