Advance in the pathogenesis and treatment of Wilson disease

• Main Authors: Dong Qin-Yun, Wu Zhi-Ying
• Format: Article
• Language: English
• Published: BMC 2012-11-01
• Series: Translational Neurodegeneration
• Subjects: Wilson disease; Copper; ATP7B; COMMD1; D-penicillamin; Trientine; Zinc; Ammonium tetrathiomolybdate; Liver transplantation
• Online Access: http://www.translationalneurodegeneration.com/content/1/1/23

<p>Abstract</p> <p>Wilson disease is an autosomal recessive disorder of copper metabolism. Diagnosis depends primarily on clinical features, biochemical parameters and the presence of the Kayser-Fleischer ring. Genetic analysis for mutations within <it>ATP7B</it> is a convincing diagnostic tool. The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake. Medical therapy is effective but WD is not yet curable. Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure, although evaluation of its long-term effect are still in need.</p>