Giannini E, Fasoli A, Botta F, Testa R
Department of Internal Medicine, University of Genoa, Italy.
Ital J Gastroenterol Hepatol. 1998 Dec;30(6):633-5.
A case of late presentation of Wilson's disease in a female with a thalassaemic trait is reported in whom diagnosis of Factor V deficiency was made. Despite ignoring the disease for years the patient had compensated cirrhosis. She had a dramatic family history of Wilson's disease affecting at least two brothers and two sisters. Moreover, her haematologic problems were not clinically revealed until diagnosis had been made on the basis of suspicions arising from laboratory results. The therapy of choice for hepatolenticular degeneration was not feasible due to the patient's refusal. Zinc salts were, therefore, administered. To our knowledge the association of such rare genetic disorders has not been reported.
报告了一例患有地中海贫血特质的女性迟发性威尔逊病病例,该病例被诊断为凝血因子V缺乏症。尽管多年来一直忽视这种疾病,但患者已发展为代偿性肝硬化。她有威尔逊病的显著家族病史,至少影响了两个兄弟和两个姐妹。此外,直到根据实验室结果产生的怀疑做出诊断,她的血液学问题才在临床上显现出来。由于患者拒绝,肝豆状核变性的首选治疗方法不可行。因此,给予了锌盐治疗。据我们所知,尚未有此类罕见遗传疾病关联的报道。