Unusual mucopolysaccharide disorder with corneal and scleral involvement.
Unusual mucopolysaccharide disorder with corneal and scleral involvement.
复制标题
不寻常的粘多糖疾病，累及角膜和巩膜。
DOI：
10.1016/s0002-9394(14)70684-1
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发表时间：
1990
影响因子：
4.2
通讯作者：
Font,RL
中科院分区：
文献类型：
--
作者：
Winterbotham,CT;Torczynski,E;Horwitz,AL;Yue,BY;Font,RL
一名68岁男性和一名66岁女性有弥漫性角膜基质沉积物，用阿辛蓝和胶体铁染色，但不与高碘酸-希夫染色和脂质染色反应。在一个病例中，在死后巩膜内发现了类似的沉积物，但在其他眼或眼外组织中没有发现。异常物质对睾丸透明质酸酶和软骨素酶敏感。1例经软骨素酶AC消化后与单克隆抗体9-A-2反应，2例经ABC消化后与单克隆抗体9-A-2反应，这与糖胺聚糖4-硫酸软骨素和硫酸皮肤素的鉴定一致。在这两种情况下，角膜的电子显微镜检查发现颗粒状物质分散在细胞外的空泡中，很少在角膜细胞中。两例患者的血液和皮肤成纤维细胞酶测定结果均正常，提示存在储存病。
A 68-year-old man and a 66-year-old woman had diffuse corneal stromal deposits that stained with alcian blue and colloidal iron but did not react with periodic acid-Schiff stain and lipid stains. Similar deposits were found within postmortem sclera in one case, but not in other ocular or extraocular tissues. The abnormal material was sensitive to testicular hyaluronidase and chondroitinase. The material reacted with monoclonal antibody 9-A-2 after digestion by chondroitinase AC in one case and ABC in both cases, which is consistent with the identification of the glycosaminoglycans chondroitin 4-sulfate and dermatan sulfate. Electron microscopic examination of the cornea in both cases disclosed granular material in vacuoles dispersed extracellularly and, rarely, in keratocytes. Results of blood and skin fibroblast enzyme assays for clinically relevant mucopolysaccharidoses and mucolipidoses were normal in both patients, and there were no somatic abnormalities suggesting a storage disease.