Update on the Diagnosis and Management of Wilson Disease.

Eve A Roberts

Journal: Current gastroenterology reports 2019;20(12):56

PMID: 30397835

Abstract

PURPOSE OF REVIEW

Exciting developments relating to Wilson disease (WD) have taken place with respect to both basic biological and clinical research. This review critically examines some of these findings and considers their implications for current thinking about WD. It is not a comprehensive review of WD as a clinical disorder.

RECENT FINDINGS

The structure of the gene product of ATP7B, abnormal in WD, is being worked out in detail, along with a broader description of how the protein ATP7B (Wilson ATPase) functions in cells including enterocytes, not only in relation to copper disposition but also to lipid synthesis. Recent population studies raise the possibility that WD displays incomplete penetrance. Innovative screening techniques may increase ascertainment. New strategies for diagnosing and treating WD are being developed. Several disorders have been identified which might qualify as WD-mimics. WD can be difficult to diagnose and treat. Insights from its pathobiology are providing new options for managing WD.

Address: Paediatrics, Medicine, and Pharmacology & Toxicology, University of Toronto, Toronto, Canada. [email protected].; History of Science and Technology Programme, University of King's College, Halifax, NS, USA. [email protected].; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Room 8258, Black Wing, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada. [email protected].

DOI: 10.1007/s11894-018-0660-7