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Hereditary nephritis (Alport syndorome) : abnormalities in type IV collagen alpha5 chain and skin diagnosis

遗传性肾炎（Alport 综合征）：IV 型胶原 α5 链异常和皮肤诊断

基本信息

批准号：
07670920
负责人：
YOSHIOKA Kazuo
金额：
$ 0.83万
依托单位：
Kinki University School of Medicine
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1995
资助国家：
日本
起止时间：
1995 至 1996
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07670920/
关键词：
Alport syndrome Type IV collagen Basement membrane type IV collagen alpha5 chain 糸球体基底膜表皮基底膜糸状体基底膜アルポート症候群

项目摘要

To identify the abnormalities of the type IV collagen alpha5 chain, alpha5 (IV), in Alport syndrome, we examined renal and skin tissues using rat monoclonal antibodies recognizing non-consensus amino acid sequences of alpha5 (IV). Immunofluorescence of normal human kidney and skin tissues revealed linear alpha5 (IV) staining in the basement membrane (BM) of glomerulus, Bowman's capsule, in some tubules and also in the epidermal BM.Renal specimens from 5 male patients of 4 families with X-linked Alport syndrome showed no reactivity for alpha5 (IV) in glomerulus, Bowman's capsules and tubules. In these patients, alpha1 (IV) and alpha2 (IV) were normal, whereas alpha3 (IV), alpha4 (IV), alpha5 (IV) and alpha6 (IV) were absent from the BMs of the kidney. In skin tissues of male patients, neither alpha5 (IV) nor alpha6 (IV) were detected. The epidermal BM of female heterozygotes with X-linked Alport syndrome showed a mosaic staining for alpha5 (IV) and alpha6 (IV). These findings indicate that, in addition to a disturbed alpha3 (IV) -alpha4 (IV) -alpha5 (IV) network, patients with X-linked Alport syndrome have abnormalities in alpha6 (IV) of the renal and epidermal BMs at the protein level.

为了确定Alport综合征中IV型胶原α 5链（α 5（IV））的异常，我们使用识别α 5（IV）非共有氨基酸序列的大鼠单克隆抗体检查了肾脏和皮肤组织。正常人肾脏和皮肤组织的免疫荧光显示肾小球基底膜（BM）、Bowman囊、某些肾小管和表皮BM中的线性α 5（IV）染色。来自4个X连锁Alport综合征家族的5名男性患者的肾脏标本显示肾小球、Bowman囊和肾小管中的α 5（IV）无反应性。在这些患者中，α 1（IV）和α 2（IV）是正常的，而α 3（IV），α 4（IV），α 5（IV）和α 6（IV）在肾脏BM中缺失。在男性患者的皮肤组织中，既没有检测到α 5（IV），也没有检测到α 6（IV）。X连锁Alport综合征女性杂合子的表皮BM显示α 5（IV）和α 6（IV）的镶嵌染色。这些发现表明，除了α 3（IV）-α 4（IV）-α 5（IV）网络紊乱外，X连锁Alport综合征患者在蛋白质水平上的肾脏和表皮BM的α 6（IV）也存在异常。