CAJ | 학술논문

糖原贮积病（glycogen storage disease，GSD）为糖原代谢障碍导致糖原在肝脏、肌肉、肾脏等组织器官中贮积所致的一组遗传代谢性疾病，根据酶缺陷不同，至少可分为12型，以GSD1型最常见，GSD1早期可继发显著的高脂血症，随年龄增长可能出现肾功能不全、高血压等远期并发症，这些均为动脉粥样硬化的危险因素，可能增加卒中风险。本文依据GSD1合并卒中的病例报告，探讨GSD1卒中发生的相关机制，目前主要有两种观点：其一认为GSD1患者是早期动脉粥样硬化、卒中的高危人群；其二认为GSD1有显著高脂血症而卒中发病率小，可能具有抗动脉粥样硬化机制，本文从以上两方面分别阐述。
당원저적병（glycogen storage disease，GSD）위당원대사장애도치당원재간장、기육、신장등조직기관중저적소치적일조유전대사성질병，근거매결함불동，지소가분위12형，이GSD1형최상견，GSD1조기가계발현저적고지혈증，수년령증장가능출현신공능불전、고혈압등원기병발증，저사균위동맥죽양경화적위험인소，가능증가졸중풍험。본문의거GSD1합병졸중적병례보고，탐토GSD1졸중발생적상관궤제，목전주요유량충관점：기일인위GSD1환자시조기동맥죽양경화、졸중적고위인군；기이인위GSD1유현저고지혈증이졸중발병솔소，가능구유항동맥죽양경화궤제，본문종이상량방면분별천술。
Glycogen storage disease type I is an autosomal recessive inborn error of carbohydrate metabolism caused by defects of the glucose-6-phosphatase (G6Pase) complex, which results in accumulation of glycogen in liver, kidney and intestine. Patients have marked hyperlipidaemia in early stage, moreover, there would develop long-term complications such as renal insufifciency, hypertension, all adding to risk factors for atherosclerosis, thus increase the risk for stroke. Herein, we reviewed the 6 cases reports that presented GSD1 patients with stroke. While the underlying mechanisms remained elusive, some authors advocated that GSD1 were predisposed to premature atherosclerosis and stroke, on the contrary, some authors suggested an anti-atherosclerosis mechanism, studies regarding the above two distinct perspectives were reviewed.