遗传性α-色氨酸血症：基因分型及相关临床特征
Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features.
作者信息
Lyons Jonathan J
机构信息
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 11N240 MSC 1889, 10 Center Drive, Bethesda, MD 20892, USA.
出版信息
Immunol Allergy Clin North Am. 2018 Aug;38(3):483-495. doi: 10.1016/j.iac.2018.04.003. Epub 2018 Jun 9.
Abstract
Hereditary alpha tryptasemia is an autosomal dominant genetic trait caused by increased germline copies of TPSAB1 encoding alpha-tryptase. Individuals with this trait have elevated basal serum tryptase, and may present with associated multisystem complaints. Both basal serum tryptase levels and severity of clinical symptoms display a gene-dose relationship with TPSAB1, whereby higher tryptase levels and greater symptom severity are correlated with increasing numbers of alpha-encoding TPSAB1. As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy.
摘要
遗传性α-类胰蛋白酶血症是一种常染色体显性遗传性状，由编码α-类胰蛋白酶的TPSAB1种系拷贝数增加所致。具有该性状的个体基础血清类胰蛋白酶水平升高，可能伴有多系统相关症状。基础血清类胰蛋白酶水平和临床症状的严重程度均与TPSAB1呈现基因剂量关系，即类胰蛋白酶水平越高、症状越严重，与编码α的TPSAB1数量增加相关。随着基础血清类胰蛋白酶增加和/或类胰蛋白酶基因表达改变的功能效应得以阐明，将能更深入了解与遗传性α-类胰蛋白酶血症相关的症状及其潜在治疗方法。
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