Ducros V, Rousset J, Garambois K, Boujet C, Rolland M O, Valenti K, Bouillet L, Jaillard A, Favier A
Département de biologie intégrée, CHU, Grenoble, France.
Rev Med Interne. 2006 Feb;27(2):140-3. doi: 10.1016/j.revmed.2005.09.018. Epub 2005 Nov 7.
To the request of total plasma homocysteine determination in the investigation of vascular disease, diagnosis of homocystinuria in young adult patients with mild phenotype is not so rare.
A 26-year-old man developed embolic cerebral infarction and a 22-year-old woman presented a right renal venous thrombosis one week after delivery. In each case, high concentration of total plasma homocysteine was first found and plasma and urinary amino acids analysis later on directed the diagnosis towards homocystinuria. Finally, reduced skin fibroblast cystathionine beta-synthase activity confirmed the diagnosis of homocystinuria.
Total plasma homocysteine determination must be determined for screening for hyperhomocysteinemia in young adults with venous thromboembolism without characteristic phenotypic features of homocystinuria.
应血管疾病调查中总血浆同型半胱氨酸测定的要求，在轻度表型的年轻成年患者中诊断同型胱氨酸尿症并不罕见。
一名26岁男性发生栓塞性脑梗死，一名22岁女性在产后一周出现右肾静脉血栓形成。在每例病例中，首先发现总血浆同型半胱氨酸浓度升高，随后血浆和尿氨基酸分析将诊断指向同型胱氨酸尿症。最后，皮肤成纤维细胞胱硫醚β-合酶活性降低证实了同型胱氨酸尿症的诊断。
对于无同型胱氨酸尿症特征性表型的静脉血栓栓塞症年轻成年人，必须测定总血浆同型半胱氨酸以筛查高同型半胱氨酸血症。
