糖原贮积病1型患者卒中风险的研究现状

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。

Risks of Stroke in Glycogen Storage Disease Type I

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 insufficiency, 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 antiatherosclerosis
mechanism, studies regarding the above two distinct perspectives were reviewed.