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2018 ; 8
(ä): 525
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Advances in Treatment of Wilson Disease
#MMPMID29520330
Aggarwal A
; Bhatt M
Tremor Other Hyperkinet Mov (N Y)
2018[]; 8
(ä): 525
PMID29520330
show ga
BACKGROUND: Wilson disease (WD) is an inherited neurometabolic disorder that
results in excessive copper deposition in the liver and the brain, affecting
children and young adults. Without treatment the disease is invariably fatal.
Though treatments for WD have been available since the 1950s, the disease
continues to be associated with considerable morbidity and mortality because of
missed diagnosis, and delayed or inadequate treatment. In this paper we survey
WD-related literature in order to review recent advances in WD treatment.
METHODS: We performed a literature search using the PubMed database for articles
relating to WD and its medical treatment. We reviewed the articles, and
cross-references of relevant articles, to summarize the current practices for
treatment of WD. RESULTS: The survey shows that if WD is properly treated, in
most patients the liver can be stabilized, even severe neurological disability
reversed, and patients can resume normal lives. DISCUSSION: Medical treatment for
WD includes use of copper chelators (penicillamine, trientine, dimercaprol,
dimercaptopropane sulfonate, and ammonium tetrathiomolybdate) and drugs that
decrease gastrointestinal copper absorption. Our knowledge of the treatment
approaches has benefited from the large systematic clinical studies that have
been conducted over the last decade. For each drug used to treat WD, we surveyed
its development, indication for use, dosing, efficacy, and adverse effects.