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Wilson disease

A. Członkowska, T. Litwin, P. Dusek, P. Ferenci, S. Lutsenko, V. Medici, JK. Rybakowski, KH. Weiss, ML. Schilsky,

. 2018 ; 4 (1) : 21. [pub] 20180906

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/bmc19035029

Grantová podpora
R01 DK071865 NIDDK NIH HHS - United States
R01 DK104770 NIDDK NIH HHS - United States
R56 DK071865 NIDDK NIH HHS - United States
NV15-25602A MZ0 CEP - Centrální evidence projektů

Digitální knihovna NLK
Plný text - Článek

E-zdroje Online Plný text

NLK ProQuest Central od 2015-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2015-01-01 do Před 1 rokem

Odkazy

PubMed 30190489
DOI 10.1038/s41572-018-0018-3
Knihovny.cz E-zdroje

Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.

Citace poskytuje Crossref.org

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