Niiyama Takahito, Higuchi Itsuro, Hashiguchi Teruto, Suehara Masahito, Uchida Yuichi, Horikiri Takashi, Shiraishi Tadafumi, Saitou Akiko, Hu Jing, Nakagawa Masanori, Arimura Kimiyoshi, Osame Mitsuhiro
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1 Sakuragaoka, 890-8520 Kagoshima, Japan.
Acta Neuropathol. 2003 Aug;106(2):137-42. doi: 10.1007/s00401-003-0714-1. Epub 2003 May 8.
We examined the capillaries in muscle biopsy specimens from two patients with Ullrich's disease with collagen VI deficiency by light and electron microscopy. Collagen VI plays an important role in platelet aggregation for binding von Willebrand factor. Using immunohistochemistry, collagen VI was shown to be absent on capillaries from patients with Ullrich's disease, while von Willebrand factor, collagen IV, and vascular endothelial growth factor were normally expressed. Electron microscopy revealed narrow lumens, large nuclei in endothelial cells, and fenestration of a capillary. The number of pinocytotic vesicles per unit endothelial cytoplasm was increased. The cytoplasm of endothelial cells was strongly stained with uranyl acetate and lead citrate. Replication of the capillary basement membrane was observed. On the other hand, easy bleeding and coagulation were not observed in the two patients. These findings suggested that the collagen VI deficiency might have caused the electron microscopic changes of capillaries, while the function of the capillaries is apparently retained.
我们通过光学显微镜和电子显微镜检查了两名患有胶原蛋白VI缺乏症的乌尔里希氏病患者肌肉活检标本中的毛细血管。胶原蛋白VI在血小板聚集中通过结合血管性血友病因子发挥重要作用。使用免疫组织化学方法，发现乌尔里希氏病患者的毛细血管上不存在胶原蛋白VI，而血管性血友病因子、胶原蛋白IV和血管内皮生长因子表达正常。电子显微镜显示管腔狭窄、内皮细胞核大以及毛细血管有窗孔。每单位内皮细胞质中胞饮小泡的数量增加。内皮细胞的细胞质被醋酸铀和柠檬酸铅强烈染色。观察到毛细血管基底膜的复制。另一方面，这两名患者未出现容易出血和凝血的情况。这些发现表明，胶原蛋白VI缺乏可能导致了毛细血管的电子显微镜下变化，而毛细血管的功能显然得以保留。
