Newman G, Mitchell J R
Q J Med. 1984 Spring;53(210):251-8.
We describe a patient with pyridoxine-responsive homocystinuria who presented with multiple arterial occlusions after pregnancy but who showed no other stigmata of the disease and we suggest that in patients with unusual vascular lesions, screening for homocystinuria should be carried out even in the absence of the other manifestations of the condition. Family screening showed that her brother was also affected but that their children were not, confirming the autosomal recessive model of inheritance. We found the index case to have normal platelet behaviour; both she and her brother had normal veins and arteries on biopsy, so the mechanisms underlying the thrombotic complications remain uncertain. It seems likely that pregnancy contributed to the time of onset of the thrombotic complications in the index case, because of the foetal demands for pyridoxine or folate during gestation.
我们描述了一名对吡哆醇有反应的同型胱氨酸尿症患者，该患者在妊娠后出现多处动脉闭塞，但无该疾病的其他体征。我们建议，对于有不寻常血管病变的患者，即使没有该疾病的其他表现，也应进行同型胱氨酸尿症筛查。家族筛查显示，她的哥哥也受影响，但他们的孩子未受影响，证实了常染色体隐性遗传模式。我们发现该索引病例的血小板行为正常；她和她哥哥的活检显示静脉和动脉均正常，因此血栓形成并发症的潜在机制仍不确定。由于孕期胎儿对吡哆醇或叶酸的需求，妊娠似乎促成了索引病例血栓形成并发症的发病时间。
