[法布里病的诊断和治疗的最新进展]。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-09-02 DOI:10.3760/cma.j.cn112140-20230314-00179

J L Liu, H Xu

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[Recent advances in the diagnosis and treatment of Fabry disease].

法布雷病是一种罕见的 X 连锁遗传溶酶体贮积症，是由于 GLA 基因变异引起 α 半乳糖苷酶 A（α-Gal A）活性异常，从而代谢底物在多脏器贮积，导致多系统受累。儿童期早筛、早诊、早治是关键。法布雷病需多学科综合管理，本文着重介绍儿童法布雷病症状、诊断和鉴别诊断、治疗、筛查和遗传咨询进展的相关知识，有助于儿科医师提高对本病的认知和防治水平。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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