Senzolo Marco, Loreno Massimiliano, Fagiuoli Stefano, Zanus Giacomo, Canova Daniele, Masier Annalisa, Russo Francesco Paolo, Sturniolo Giacomo Carlo, Burra Patrizia
Gastroenterology, Department of Surgical and Gastroenterological Sciences, University of Padua, Padua, Italy.
Clin Neurol Neurosurg. 2007 Jan;109(1):71-5. doi: 10.1016/j.clineuro.2006.01.008. Epub 2006 Mar 20.
Wilson's disease is a genetic disorder characterized by accumulation of copper in many organs and tissues. Phenotypic manifestations are wide-ranging from neuropsychiatric disorders, to severe liver disease requiring liver transplantation. Clinical presentation is not often related to the genetic defect and siblings may have different type of disease. Liver transplantation is indicated for all patients with Wilson's disease and decompensated liver cirrhosis unresponsive to medical therapy, but its efficacy in resolving the neurological symptoms is still controversial, because as far now, very different outcomes have been reported. We describe here on the exceptional case of two homozygotic twins, both with liver cirrhosis due to Wilson's disease, one of them with severe neuropsychiatric involvement, who both underwent liver transplantation and subsequently had very different outcome despite same genetic background. The presence of neurological clinical manifestations in Wilson's disease should recommend caution indicating liver transplantation, because irreversible brain damage may exist.
威尔逊氏病是一种遗传性疾病，其特征是铜在许多器官和组织中蓄积。表型表现范围广泛，从神经精神疾病到需要肝移植的严重肝病。临床表现通常与基因缺陷无关，兄弟姐妹可能患有不同类型的疾病。对于所有患有威尔逊氏病且对药物治疗无反应的失代偿性肝硬化患者，均应进行肝移植，但其在缓解神经症状方面的疗效仍存在争议，因为到目前为止，报道的结果差异很大。我们在此描述一对同卵双胞胎的特殊病例，两人均因威尔逊氏病患有肝硬化，其中一人有严重的神经精神症状，他们都接受了肝移植，尽管基因背景相同，但随后的结果却大不相同。威尔逊氏病中神经临床表现的存在应提示在考虑肝移植时要谨慎，因为可能存在不可逆的脑损伤。
