皮肤及肾组织Ⅳ型胶原α链测定在早期诊断遗传性肾病的意义  

Significance of epidermal tissue α chains of Ⅳ collagen detection in early diagnosis of hereditary nephropathy

作　　者：张薇[1] 何威逊[1] 朱光华[1] 罗运九[1] 方明俊[1] 

机构地区：[1]上海交通大学附属儿童医院肾脏科,上海200040

出　　处：《实用儿科临床杂志》2004年第9期736-738,共3页Journal of Applied Clinical Pediatrics

摘　　要：目的　探讨皮肤及肾组织基底膜Ⅳ型胶原α链在薄基底膜肾病 (TBMN)患儿中早期诊断Alport′s综合征 (AS)中的作用。方法　对 2 1例有肾脏病家族史且诊断为TBMN患儿采用间接免疫荧光法检测皮肤基底膜 (EBM)及肾小球基底膜 (GBM )Ⅳ型胶原α链分布情况。结果　 2 1例中 18例EBMα1α5(+)连续 ,GBMα1α3 α5(+)连续。另 3例中 1例男童肾炎性肾病 :EBMα1(+)连续、α5(- ) ,GBMα1(+)连续、α3 α5(- ) ;2例女童孤立性血尿 :EBMα1(+)连续、α5(+)不连续 ,GBMα1(+)连续、α3 α5(+)不连续。此 3例最后确诊为AS。结论　对TBMN患儿行皮肤及肾活检检测基底膜α1、α3 、α5链 。Objective To study early diagnosis of Alport′s syndrome (AS) in the patients with thin basement membrane nephropathy(TBMN) by detecting the distribution of α chains of Ⅳ collagen in the epidermal basement membrane (EBM) and the glomerular basement membrane (GBM). Methods Twenty-one patients,diagnosed as TBMN that all had the family history,detected the distribution α chains of Ⅳ collagen in EBM and GBM by indirect immunofluorescence. Results α 1 α 5(+) in EBM was continuous, α 1 α 3 α 5(+) in GBM was continuous in 18 cases. One of the other 3 cases was a boy with typeⅡnephropathy, α 1(+) in EBM was continuous , α 5(-) in EBM;α 1 (+) in GBM was continuous, α 3 α 5(+) in GBM was discontinuous.Other 2 cases were girls with isolated hematuria ,α 1(+) in EBM was continuous,α 5(+) was discontinuaus; α 1(+) in GBM was continuous, α 3 α 5(+) in GBM was discontinuous. Three cases were diagnosed as AS (14.29 %). Conclusion To detect α 1,α 3,α 5 chains of EBM and GBM in patients with TBMN can early diagnose AS.

关 键 词：肾炎 遗传性 Ⅳ型胶原α链 薄基底膜肾病 Alport’s综合征 

分 类 号：R726.9[医药卫生—儿科]