Almgren B, Eriksson I, Hemmingsson A, Hillerdal G, Larsson E, Aberg H
Acta Chir Scand. 1978;144(7-8):545-8.
The first reported case of abdominal aortic aneurysm complicating homocystinuria is presented. The clinical features and microscopic findings were identical to those of an atherosclerotic aneurysm. Homocystinuria may stimulate Marfan's syndrome but can be differentiated by the cyanide-nitroprusside screening test for homocystine in urine. Although homocystinuria is accompanied by an increased risk of thrombosis, surgical treatment of complicating diseases should not be avoided. Pyridoxine treatment is recommended.
本文报告首例腹主动脉瘤合并同型胱氨酸尿症的病例。其临床特征和显微镜下表现与动脉粥样硬化性动脉瘤相同。同型胱氨酸尿症可能会诱发马方综合征,但可通过尿中同型胱氨酸的氰化高铁氰化钾筛查试验进行鉴别。尽管同型胱氨酸尿症会增加血栓形成的风险,但对于并发症仍不应避免手术治疗。建议使用吡哆醇治疗。