[α1-抗胰蛋白酶缺乏症]

[Alpha 1-antitrypsin deficiency].

作者信息

Fähndrich Sebastian, Bals Robert

机构信息

Klinik für Pneumologie, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität, Killianstraße 5, 79106, Freiburg, Deutschland.

Klinik für Innere Medizin V, Universitätsklinikum des Saarlandes, Universität des Saarlandes, Kirrbergerstr. 100, 66421, Homburg, Deutschland.

出版信息

Inn Med (Heidelb). 2024 Jun;65(6):533-537. doi: 10.1007/s00108-024-01722-2. Epub 2024 May 24.

DOI:10.1007/s00108-024-01722-2

PMID:38789803

Abstract

Alpha 1‑antitrypsin (AAT) deficiency represents a complex genetic disorder and necessitates an interdisciplinary approach in the clinical practice. This article provides an overview of the epidemiology, genetics, symptoms, diagnostics and treatment of AAT deficiency. Knowledge and an in-depth understanding of AAT deficiency are indispensable to improve the early recognition of AAT, to optimize the quality of life of those affected and to enable targeted treatment interventions.

摘要

α1-抗胰蛋白酶（AAT）缺乏症是一种复杂的遗传性疾病，在临床实践中需要采用跨学科方法。本文概述了AAT缺乏症的流行病学、遗传学、症状、诊断和治疗。了解并深入认识AAT缺乏症对于提高对AAT的早期识别、优化患者生活质量以及进行有针对性的治疗干预至关重要。