Wilson disease: more than meets the eye

被引:8
|
作者
Kelly, Claire [1 ,2 ]
Pericleous, Marinos [1 ,2 ]
机构
[1] Royal Surrey Cty Hosp, Dept Gastroenterol & Hepatol, Guildford GU2 7XX, Surrey, England
[2] Univ Surrey, Dept Clin & Expt Med, Guildford, Surrey, England
关键词
LIVER-TRANSPLANTATION; COPPER; DIAGNOSIS; EXCRETION; ABNORMALITIES; EXPERIENCE; PHYSIOLOGY;
D O I
10.1136/postgradmedj-2017-135381
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation. Here, we provide an overview of this complex condition.
引用
收藏
页码:342 / 347
页数:6
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