title: Evolving perspectives in Wilson disease: diagnosis, treatment and monitoring.
abstract: Wilson disease (WD), the autosomal recessively inherited copper overload disorder, remains a diagnostic and therapeutic challenge. In the last decade, direct sequencing of the affected gene ATP7B became commercially available, but interpretation of the results still requires careful attention. Thus, a combination of tests reflecting the disturbed copper metabolism is needed to make the final diagnosis. Because of the low disease frequency, the existing treatment concepts are not based on controlled trails. Here, recent outcome reports of larger cohort studies challenge the recommended therapies and call for individualized treatment strategies. The notion, that certain medical regimens may either be insufficient to upkeep copper homeostasis or may lead to a clinically relevant overtreatment, demand a continuous monitoring of patients even after decades of therapy. In this article, we review current diagnostic and therapeutic approaches in WD.
authors.affiliation: University Hospital Heidelberg, Internal Medicine IV, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany. karl-heinz.weiss@med.uni-heidelberg.de
authors.forename: Karl Heinz
authors.initials: KH
authors.lastname: Weiss
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Stremmel
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008991:Monitoring, Physiologic
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
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