首页|肝豆状核变性诊治难点与思路

肝豆状核变性诊治难点与思路

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肝豆状核变性(hepatolenticular degeneration,HLD)又称为Wilson病(Wilson's disease,WD),是一种常染色体隐性遗传性疾病,是经过治疗可以得到有效控制的神经遗传性疾病之一.本病起病隐匿,基因突变类型多变而复杂,临床表现千变万化,可累及全身多个系统,不典型患者难以被识别或易被忽略而导致临床误诊或漏诊.早期诊断和及时、合理的治疗可以延缓疾病的进展,保证患者正常生活质量,使患者达到或接近正常寿命,如延误治疗或不恰当治疗可导致严重后遗症,甚至死亡.该文对WD诊断与治疗过程中易遇到的难点问题进行概述,并提出应对措施以供临床医师参考.
Difficulties and Ideas in Diagnosis and Treatment of Wilson's Disease
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.

Hepatolenticular degenerationDifficulties in diagnosis and treatmentDiagnosis and treatment idea

刘丹青、杨文明、汪瀚、汪美霞、董婷、韩辉、何望生、谢文婷、江海林

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安徽中医药大学第一附属医院,新安医学教育部重点实验室 安徽合肥 230031

肝豆状核变性 诊治难点 诊治思路

国家自然科学基金区域创新发展联合基金项目国家自然科学基金面上项目国家中医药管理局中医药循证能力建设项目安徽高校协同创新项目

U22A20366819738252019XZZX-NB001GXXT-2020-025

2024

中医药临床杂志
中华中医药学会

中医药临床杂志

影响因子:0.636
ISSN:1672-7134
年,卷(期):2024.36(3)
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