Ospedale Regionale per le Microcitemie, Cagliari, Italy.
Dig Liver Dis. 2013 Apr;45(4):342-5. doi: 10.1016/j.dld.2012.10.017. Epub 2012 Dec 7.
Wilson's disease diagnosis is still a challenge for clinicians.
To underline the importance of genetic testing in carrier detection and diagnosis of atypical Wilson's disease cases.
Two families with Wilson's disease in two consecutive generations were analysed with clinical, biochemical and genetic testing.
In one family with triplet siblings, two of whom monozygotic, molecular screening of ATP7B, the gene responsible for Wilson's disease phenotype, allowed detection of 3 disease alleles, the discrimination between carrier and disease state and the postmortem diagnosis of Wilson's disease in the siblings' father. In the second family, molecular analysis detected 3 disease alleles and confirmed the diagnosis of Wilson's disease in two asymptomatic monozygotic twins.
These results demonstrate that mutational analysis is determinant for carrier identification and diagnosis of atypical Wilson's disease patients.
威尔逊病的诊断仍然是临床医生面临的挑战。
强调基因检测在携带者检测和不典型威尔逊病病例诊断中的重要性。
对连续两代的两个威尔逊病家系进行临床、生化和基因检测分析。
在一个三胞胎家庭中，其中两个是同卵双胞胎，对负责威尔逊病表型的 ATP7B 基因进行分子筛查，发现了 3 个疾病等位基因，能够区分携带者和疾病状态，并对兄弟姐妹的父亲进行了威尔逊病的死后诊断。在第二个家庭中，分子分析检测到 3 个疾病等位基因，并证实了两个无症状同卵双胞胎的威尔逊病诊断。
这些结果表明，突变分析对于携带者的识别和不典型威尔逊病患者的诊断是决定性的。
