Feugray Guillaume, Guillerme Jennifer, Fraissinet François, Brunel Valéry, Chagraoui Abdeslam, Dumant-Forest Clémentine, Lahary Agnès
Service d'hématologie biologique, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.
Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.
Ann Biol Clin (Paris). 2020 Aug 1;78(4):425-432. doi: 10.1684/abc.2020.1574.
Wilson disease is a rare inherited disorder of copper metabolism that affects liver and brain due to copper tissue accumulation. The mechanism involved is based on mutations of the ATP7B gene. Children have predominant hepatic manifestations while adult are more often diagnosed by neurological and psychiatric symptoms. However, others features are tubulopathy, articular disorders and hemolytic anemia. We report the diagnostic of Wilson disease in a 14 years old girl and her sibling after investigation of hemolytic anemia, hepatic insufficiency, and hypophosphatemia.
威尔逊病是一种罕见的铜代谢遗传性疾病，由于铜在组织中蓄积，会影响肝脏和大脑。其涉及的机制基于ATP7B基因突变。儿童主要表现为肝脏症状，而成人则更常通过神经和精神症状被诊断出来。然而，其他特征包括肾小管病、关节疾病和溶血性贫血。我们报告了一名14岁女孩及其兄弟姐妹在出现溶血性贫血、肝功能不全和低磷血症后被诊断为威尔逊病的情况。
