中国遗传性血管性水肿的诊疗现状与未来

The Landscape and Horizon: Diagnosis and Treatment of Hereditary Angioedema in China

  • 摘要: 遗传性血管性水肿(hereditary angioedema, HAE)是一种罕见且可能危及生命的遗传性疾病。近年来,随着国家对罕见病的高度重视,中国HAE的诊疗体系迎来了前所未有的发展机遇。本文旨在述评中国HAE诊疗现状,包括诊断水平的提升、靶向药物的可及性突破以及现阶段面临的挑战,并对未来的发展方向,如创新性诊断方法、新型治疗药物试验及人工智能应用等方面进行展望,以期为提升中国HAE整体诊疗水平提供参考。

     

    Abstract: Hereditary angioedema (HAE) is a rare and potentially life-threatening hereditary disease. In recent years, with the country′s high emphasis on rare diseases, the diagnosis and treatment system for HAE in China has embraced unprecedented development opportunities. This article aims to review the current status of HAE diagnosis and treatment in China, including improvements in diagnostic capabilities, breakthroughs in the accessibility of targeted drugs, and the challenges faced at present. It also offers perspectives on future directions, such as innovative diagnostic approaches, clinical trials of novel therapeutic drugs, and the application of artificial intelligence, with the hope of providing references for enhancing the overall diagnosis and treatment level of HAE in China.

     

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