Hong H S, Lee H K, Kwon K H
Department of Radiology, College of Medicine, Soonchunhyang University Hospital, Hannam Dong 657 Yongsan Gu, Seoul 140-743, Korea.
Pediatr Radiol. 1997 Oct;27(10):802-4. doi: 10.1007/s002470050237.
Homocystinuria is a rare, inherited metabolic disease frequently associated with severe multisystemic involvement such as dislocated lenses, skeletal deformities, mental retardation, and premature vascular occlusion. Arterial and venous thromboembolic events present frequent and life-threatening complications in homocystinuric patients. It has been suggested that mild homocystinemia would be a risk factor for vascular disease.
同型胱氨酸尿症是一种罕见的遗传性代谢疾病,常伴有严重的多系统受累,如晶状体脱位、骨骼畸形、智力发育迟缓以及过早出现血管闭塞。动脉和静脉血栓栓塞事件在同型胱氨酸尿症患者中是常见且危及生命的并发症。有人提出,轻度高同型半胱氨酸血症可能是血管疾病的一个危险因素。