Masuda H, Morishita Y, Taira A, Kuriyama M
Second Department of Surgery, Kagoshima University Faculty of Medicine, Japan.
Chest. 1993 Mar;103(3):968-70. doi: 10.1378/chest.103.3.968.
A 62-year-old man who had aortic stenosis associated with Scheie's syndrome (mucopolysaccharidosis [MPS], type I-S) successfully underwent aortic valve replacement. The composition of acidic glycosaminoglycans (acid mucopolysaccharides) of the excised aortic valve analyzed by high-performance liquid chromatography (HPLC) supported the diagnosis of Scheie's syndrome. This article reviews the literature on aortic stenosis in MPS, a rare inherited metabolic disorder, and discusses biochemical features and surgical repair.
一名患有与Scheie综合征（I-S型黏多糖贮积症 [MPS]）相关的主动脉瓣狭窄的62岁男性成功接受了主动脉瓣置换术。通过高效液相色谱法（HPLC）分析切除的主动脉瓣的酸性糖胺聚糖（酸性黏多糖）成分，支持了Scheie综合征的诊断。本文回顾了关于MPS（一种罕见的遗传性代谢紊乱疾病）中主动脉瓣狭窄的文献，并讨论了其生化特征和手术修复方法。
