Hepatolenticular degeneration (HLD), also known as Wilson disease (WD), is an autosomal recessive genetic disease and one of the neurogenetic diseases that can be effectively controlled through treatment. The onset of the disease is insidious, the types of gene mutations are changeable and complex, and the clinical manifestations are ever-changing, which can involve multiple systems throughout the body. Atypical patients are difficult to be identi-fied or easily ignored, resulting in clinical misdiagnosis or missed diagnosis. Early diagnosis and timely and reason-able treatment can delay the progression of the disease, ensure the normal quality of life of patients, and enable them to reach or approach normal lifespan. Delayed or inappropriate treatment can lead to serious sequelae and even death. This paper summarizes the difficult problems encountered in the diagnosis and treatment of Wilson disease, and puts forward countermeasures for clinicians' reference.
关键词
肝豆状核变性/诊治难点/诊治思路
Key words
Hepatolenticular degeneration/Difficulties in diagnosis and treatment/Diagnosis and treatment idea
维普
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