Amson Meghan, Lamoureux Esther, Hilzenrat Nir, Tischkowitz Marc
Department of Medical Genetics, Jewish General Hospital, Quebec.
Can J Gastroenterol. 2012 Jun;26(6):330-2. doi: 10.1155/2012/176543.
The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another.
作者描述了一对兄弟姐妹，他们各自患有不同的、罕见的影响肝功能的遗传疾病。索引病例是一名18岁的无症状男性，其弟弟最近被诊断为威尔逊病，该索引病例前来进行威尔逊病筛查，结果还发现其肝功能异常，提示胆汁淤积。然而，血浆铜蓝蛋白水平、24小时尿铜浓度和肝脏合成功能均正常。进一步进行了肝脏检查和基因突变分析，最终诊断为阿拉吉尔综合征。他接受了熊去氧胆酸治疗，肝功能检查结果恢复正常。随后，发现他是威尔逊病基因ATP7B突变的携带者。在本报告中，讨论了在阿拉吉尔综合征背景下作为威尔逊病杂合子的潜在影响。还强调，临床医生在诊断可能同时患有两种极为相似的不同疾病的家庭成员时必须谨慎行事。
