Kashtan C E, Atkin C L, Gregory M C, Michael A F
Department of Pediatrics, University of Minnesota Medical School, Minneapolis.
Kidney Int. 1989 Oct;36(4):669-74. doi: 10.1038/ki.1989.244.
An antibody, which recognizes an epitope(s) on a 26 kD peptide of the noncollagenous domain of type IV collagen and which fails to bind to basement membranes of individuals with Alport syndrome, was used to characterize members of families representing phenotypic variants of the disorder. Ten of 11 families with juvenile-onset renal failure and 4 of 5 families with adult-onset renal failure exhibited loss of the epitope(s) from epidermal and/or renal basement membranes by indirect immunofluorescence. Two families with typical Alport nephropathy but normal hearing exhibited the same abnormality. This study provides strong evidence that a defect in the main noncollagenous domain of type IV collagen is common to the various phenotypes of Alport syndrome.
一种抗体可识别IV型胶原非胶原结构域中26 kD肽上的表位，且不能与患有Alport综合征个体的基底膜结合，该抗体被用于对代表该疾病表型变异的家族成员进行特征分析。11个患有青少年期肾衰竭的家族中有10个，以及5个患有成年期肾衰竭的家族中有4个，通过间接免疫荧光显示表皮和/或肾基底膜上的表位缺失。两个患有典型Alport肾病但听力正常的家族也表现出相同的异常。这项研究提供了强有力的证据，表明IV型胶原主要非胶原结构域的缺陷是Alport综合征各种表型所共有的。
