Annunziata Anna, Fiorentino Giuseppe, Coppola Antonietta, Cauteruccio Rosa, Ferrentino Laura, Fiorentino Luigi, Calabrese Cecilia
Department of Intensive Care, Unit of Pathophysiology and Respiratory Rehabilitation, AORN Ospedali dei Colli, Naples, Italy.
Department of Translational Medical Sciences, University Federico II, Naples, Italy.
Front Med (Lausanne). 2024 Dec 16;11:1479877. doi: 10.3389/fmed.2024.1479877. eCollection 2024.
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced plasma levels of alpha-1 antitrypsin (AAT), often leading to pulmonary diseases primarily emphysema and/or chronic obstructive pulmonary disease (COPD), but also bronchiectasis, bronchial asthma, or other less common disorders. Early diagnosis enables AAT augmentation therapy, which has proven to be effective in slowing down functional decline and improving survival rates. This article presents two cases of pregnant women with rare allelic variants of AATD who received AAT augmentation therapy, exploring the limited evidence on its safety during pregnancy and the potential role of decreased serum AAT levels in pregnancy-related complications.
α-1抗胰蛋白酶缺乏症(AATD)是一种遗传性疾病,其特征是血浆中α-1抗胰蛋白酶(AAT)水平降低,常导致主要为肺气肿和/或慢性阻塞性肺疾病(COPD)的肺部疾病,也可导致支气管扩张、支气管哮喘或其他不太常见的疾病。早期诊断可进行AAT补充治疗,事实证明该治疗在减缓功能衰退和提高生存率方面有效。本文介绍了两例患有AATD罕见等位基因变异的孕妇接受AAT补充治疗的病例,探讨了其在孕期安全性方面的有限证据以及血清AAT水平降低在妊娠相关并发症中的潜在作用。