Ilan Y, Eid A, Rivkind A I, Weiss D, Dubin Z, Yatziv S
Department of Medicine, Hadassah University Hospital, Jerusalem, Israel.
J Gastroenterol Hepatol. 1993 Jan-Feb;8(1):60-2. doi: 10.1111/j.1440-1746.1993.tb01176.x.
Homocystinuria is frequently associated with severe multisystem involvement such as dislocated lenses, skeletal deformities, mental retardation and premature vascular occlusions. Surprisingly, gastro-intestinal involvement has not been described in this disorder. We present a 17 year old boy with homocystinuria due to cystathionine beta-synthase deficiency, who developed severe gastrointestinal involvement, manifested by chronic diarrhoea and acute pancreatitis. The diarrhoea was successfully treated with betaine. Possible pathophysiological mechanisms and suggested treatment are described.
同型胱氨酸尿症常伴有严重的多系统受累，如晶状体脱位、骨骼畸形、智力发育迟缓及早发血管闭塞。令人惊讶的是，该疾病尚未见有胃肠道受累的报道。我们报告一名17岁因胱硫醚β合酶缺乏导致同型胱氨酸尿症的男孩，他出现了严重的胃肠道受累，表现为慢性腹泻和急性胰腺炎。腹泻经甜菜碱治疗成功。文中描述了可能的病理生理机制及建议的治疗方法。
