Wilson's disease: best practice

Abstract

Wilson's disease is an autosomal recessive disorder arising from pathogenic variants in the Atp7b gene on chromosome 13. The defective translated ATPase copper (Cu) transport protein produced leads to Cu accumulation, initially affecting the liver but eventually affecting other cells. It is just over 20 years since the last Best Practice on this topic in this journal. This review is an update on this, covering new disease biomarkers, pathogenesis, assumptions around clinical features and developments in therapy.

Keywords: DIAGNOSIS; EDUCATION; GENETICS; NEUROPATHOLOGY.