PDF(Pubmed)
Abstract：
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number. HαT affects 5% to 7% of Western populations and has been associated with joint hypermobility. Hypermobility disorders are likewise frequently AD, but genetic etiologies are often elusive. Genotyping of individuals with hypermobility spectrum disorder (n = 132), hypermobile Ehlers-Danlos syndrome (n = 78), or axial skeletal abnormalities with hypermobility (n = 56) was performed. Clinical features of individuals with and without HαT were compared. When analyzing our combined cohorts, dysphagia (p = 0.007) and retained primary dentition (p = 0.0003) were significantly associated with HαT, while positive associations with anaphylaxis (p = 0.07) and pruritus (P = 0.5) did not reach significance likely due to limited sample size. Overall, HαT prevalence is not increased in individuals with hypermobility disorders, rather linked to a unique endotype, demonstrating how HαT may modify clinical presentations of complex patients.
摘要：
遗传性α-类胰蛋白酶血症（HαT）是一种常染色体显性（AD）遗传性状，其特征是基础血清类胰蛋白酶升高≥8ng/mL，由编码TPSAB1的α-类胰蛋白酶拷贝数增加引起。HαT影响5％至7％的西方人群，并与关节过度活动有关。高流动性障碍同样经常是AD，但是遗传病因往往难以捉摸。高迁移率谱系障碍个体的基因分型(n=132)，超机动Ehlers-Danlos综合征（n=78），或轴性骨骼异常伴过度活动（n=56）。比较了有和没有HαT的个体的临床特征。在分析我们的组合队列时，吞咽困难（p=0.007）和原牙列残留（p=0.0003）与HαT显著相关，而与过敏反应(p=0.07)和瘙痒(P=0.5)的正相关没有达到显著性,可能是由于样本量有限.总的来说,HαT患病率在患有过度活动障碍的个体中没有增加，而与独特的内型有关，证明HαT如何改变复杂患者的临床表现。
