Trindade Miguel, Carvalho Joana, Barosa Mariana, Serôdio João, Oliveira Ricardo, Furtado Ana, Favas Catarina, Alves José Delgado
Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal.
Eur J Case Rep Intern Med. 2022 Jan 25;9(1):003141. doi: 10.12890/2022_003141. eCollection 2022.
Wilson's disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson's disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype-phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype.
Wilson's disease should be suspected in a young patient with subacute liver failure.The diagnostic approach to Wilson's disease can be difficult as there are a great variety of clinical scenarios.Further studies on matching genotypic variations with clinical phenotypes could improve the diagnosis and treatment of these patients.
威尔逊病是一种罕见的常染色体隐性疾病。铜转运蛋白ATP7B的缺陷会阻止铜的排泄，导致铜在多个器官中蓄积。如果能早期诊断，威尔逊病的预后良好。莱比锡标准规范了表型分类和诊断标准，从而简化了诊断方法。为了诊断目的，无需寻找ATP7B突变，而且迄今为止，基因型-表型相关性研究尚未得出任何确凿证据。需要更多信息才能可靠地评估每位患者的预后。在此，我们描述了一名年轻患者，其具有两种突变变体的组合：c.3402del和c.3061-12T>A。据我们所知，这是该复合杂合子基因型的首次报告。
对于患有亚急性肝衰竭的年轻患者，应怀疑威尔逊病。由于存在多种临床情况，威尔逊病的诊断方法可能具有挑战性。进一步研究将基因型变异与临床表型相匹配，可能会改善这些患者的诊断和治疗。
