特发性过敏性休克患儿体内胰蛋白酶水平升高：一例遗传性α-胰蛋白酶血症。

IF 2.6 4区医学 Q2 ALLERGY

Allergy Asthma and Clinical Immunology Pub Date : 2024-03-27 DOI:10.1186/s13223-023-00858-4

Vicky Le Blanc, Wade T A Watson

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引用次数: 0

摘要

遗传性α-色氨酸血症（HαT）是一种常染色体显性遗传疾病，据估计影响5%的人口。高基线色氨酸酶水平是一个一致的发现，但临床表现却有很大差异，包括完全没有症状。我们描述了一例 HαT 病例，患者是一名 5 岁 8 个月大的女孩，表现为特发性过敏性休克和基线胰蛋白酶水平升高。随着越来越多的 HαT 病例被描述出来，人们将对其临床表型有更深入的了解。

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Elevated tryptase level in a child with idiopathic anaphylaxis: a case of hereditary alpha-tryptasemia.

Hereditary alpha-tryptasemia (HαT) is an autosomal dominant disorder estimated to affect 5% of the population. High baseline tryptase level is a consistent finding, but there is a great variability of clinic manifestations, including no symptoms at all. We describe a case of HαT in a 5 years 8 months old girl manifesting with idiopathic anaphylaxis and elevated baseline tryptase level. As more cases of HαT are described, a better understanding of the clinical phenotype will be acquired.

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来源期刊

Allergy Asthma and Clinical Immunology ALLERGY-IMMUNOLOGY

CiteScore

4.30

自引率

3.70%

发文量

审稿时长

12 weeks

期刊介绍： Allergy, Asthma & Clinical Immunology (AACI), the official journal of the Canadian Society of Allergy and Clinical Immunology (CSACI), is an open access journal that encompasses all aspects of diagnosis, epidemiology, prevention and treatment of allergic and immunologic disease. By offering a high-visibility forum for new insights and discussions, AACI provides a platform for the dissemination of allergy and clinical immunology research and reviews amongst allergists, pulmonologists, immunologists and other physicians, healthcare workers, medical students and the public worldwide. AACI reports on basic research and clinically applied studies in the following areas and other related topics: asthma and occupational lung disease, rhinoconjunctivitis and rhinosinusitis, drug hypersensitivity, allergic skin diseases, urticaria and angioedema, venom hypersensitivity, anaphylaxis and food allergy, immunotherapy, immune modulators and biologics, immune deficiency and autoimmunity, T cell and B cell functions, regulatory T cells, natural killer cells, mast cell and eosinophil functions, complement abnormalities.