Stio F, Battisti G, Felici A, Marigliani M, De Vita M, Finizio R, Fabrizio G, Porcelli C, Granai A V
VI Cattedra di Patologia Speciale Chirurgica e Propedeutica Clinica, Università degli Studi La Sapienza, Roma.
G Chir. 1993 Jan;14(1):37-40.
The authors report a case of juvenile vasculopathy in a homocystinuria patient. They point out that thromboembolism may be the only symptomatic expression of this genetically determined metabolic disease. Diagnostic approach and surgical therapy of the vascular lesions as well as medical therapy to prevent further complications are analysed. The opportunity to perform clinical tests for the diagnosis of homocystinuria in all those young patients presenting vascular lesions without other risk factors is finally stressed.
作者报告了一例同型胱氨酸尿症患者的青少年血管病变病例。他们指出，血栓栓塞可能是这种由基因决定的代谢疾病的唯一症状表现。分析了血管病变的诊断方法、手术治疗以及预防进一步并发症的药物治疗。最后强调了对所有那些无其他危险因素而出现血管病变的年轻患者进行同型胱氨酸尿症诊断性临床试验的机会。
