Department of Medicine, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, Washington 98105, USA.
Semin Liver Dis. 2011 Aug;31(3):233-8. doi: 10.1055/s-0031-1286054. Epub 2011 Sep 7.
Wilson disease is an autosomal recessive disorder of copper transport characterized by toxic accumulation of copper in the liver, brain, and other organs. It is lethal if untreated, but effective treatment is available. The broad spectrum of clinical manifestations, including hepatic and neuropsychiatric symptoms, can present over a large age range, contributing to difficulty in recognition of this disease. The diagnosis has traditionally rested on measurements of ceruloplasmin and copper in urine and liver, but it remains a challenge due to ambiguous biochemical results that can overlap with healthy carriers. Although hepatic copper concentration has been the gold standard for diagnosis, direct sequencing of the ATP7B gene is sensitive, specific, and can obviate the need for invasive liver biopsy. In this article, the authors review the sensitivity, limitations, and pitfalls of ATP7B sequencing in the diagnosis of Wilson disease. ATP7B sequencing should be standard practice in the diagnosis of Wilson disease.
威尔逊病是一种常染色体隐性遗传性铜转运疾病，其特征是肝脏、大脑和其他器官中的铜毒性蓄积。如果未经治疗，该病是致命的，但有有效的治疗方法。广泛的临床表现，包括肝脏和神经精神症状，可以在很大的年龄范围内出现，这导致了该病难以识别。传统上，该诊断依赖于对尿液和肝脏中铜蓝蛋白和铜的测量，但由于生化结果不明确，与健康携带者有重叠，因此仍然具有挑战性。尽管肝铜浓度一直是诊断的金标准，但 ATP7B 基因的直接测序具有敏感性、特异性，并且可以避免肝活检的需要。本文作者回顾了 ATP7B 测序在威尔逊病诊断中的敏感性、局限性和陷阱。ATP7B 测序应该成为威尔逊病诊断的标准操作。
