Kashtan C E, Kim Y
Department of Pediatrics, University of Minnesota Medical School, Minneapolis.
Kidney Int. 1992 Jul;42(1):115-26. doi: 10.1038/ki.1992.269.
We compared the distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in glomeruli of males with Alport syndrome to their distribution in normal glomeruli and glomeruli from patients with non-Alport renal diseases. alpha 1(IV), alpha 2(IV), collagen V and collagen VI are normally restricted to the mesangium and the subendothelial aspect of the glomerular basement membrane (GBM). In contrast, these proteins were present throughout the entire width of the GBM in Alport glomeruli. These alterations were apparent in "early" Alport glomeruli, that is, those exhibiting minimal abnormalities by light microscopy, and they were further accentuated in sclerosing Alport glomeruli. Obsolescent Alport glomeruli, in which the capillary tuft had collapsed and few remaining cell nuclei were present, exhibited nearly complete loss of alpha 1(IV) and alpha 2(IV), like obsolescent glomeruli in non-Alport diseased kidneys. However, the matrix of obsolescent Alport glomeruli stained intensely for collagen V and collagen VI, while these collagen types were not prominent in obsolescent glomeruli of non-Alport diseases kidneys. These observations suggest that the process of glomerulosclerosis in Alport kidneys has attributes unique to this disease. It would also appear that mutations affecting the Alport gene product have secondary effects on the distribution of other GBM constituents.
我们比较了患有Alport综合征男性肾小球中IV型胶原的α1和α2链以及V型和VI型胶原的分布，与正常肾小球以及非Alport肾病患者肾小球中的分布情况。α1(IV)、α2(IV)、V型胶原和VI型胶原通常局限于肾小球系膜和肾小球基底膜（GBM）的内皮下区域。相比之下，在Alport肾小球中，这些蛋白质存在于GBM的整个宽度。这些改变在“早期”Alport肾小球中很明显，即那些在光学显微镜下表现出最小异常的肾小球，并且在硬化性Alport肾小球中进一步加剧。退化的Alport肾小球，其中毛细血管袢已经塌陷且仅存在少数残留细胞核，表现出α1(IV)和α2(IV)几乎完全丧失，类似于非Alport病肾中的退化肾小球。然而，退化的Alport肾小球基质对V型和VI型胶原染色强烈，而这些胶原类型在非Alport病肾的退化肾小球中并不突出。这些观察结果表明，Alport肾中的肾小球硬化过程具有该疾病特有的特征。似乎影响Alport基因产物的突变对其他GBM成分的分布有继发影响。
