Universitat de València, Facultad de Medicina, Departamento de Fisiología, IIS INCLIVA, Valencia, Spain.
Med Clin (Barc). 2024 Apr 12;162(7):336-342. doi: 10.1016/j.medcli.2023.10.014. Epub 2023 Nov 22.
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease. Early detection and biomarkers for predicting outcomes are needed to improve patient outcome. Currently, the only approved pharmacological therapy is augmentation therapy, which can delay the progression of emphysema. However, alternative strategies such as gene therapy, induced pluripotent stem cells, and prevention of AAT polymerization inside hepatocytes are being investigated. This review aims to summarize and update current knowledge on AATD, identify areas of controversy, and formulate questions for further research.
α1-抗胰蛋白酶缺乏症（AATD）是一种罕见的遗传性疾病，由α1-抗胰蛋白酶（AAT）的血浆和组织水平降低引起，可导致儿童和成人的严重肺部和肝脏疾病。AATD 患者面临诊断不足、临床变异性和肝脏疾病治疗选择有限等挑战。需要早期检测和生物标志物来预测结果，以改善患者的预后。目前，唯一批准的药物治疗方法是增敏治疗，可延缓肺气肿的进展。然而，正在研究替代策略，如基因治疗、诱导多能干细胞和预防肝细胞内 AAT 聚合。本综述旨在总结和更新 AATD 的最新知识，确定争议领域，并为进一步研究制定问题。
