[Alpha 1-antitrypsin deficiency].

Alpha-1-Antitrypsin-Mangel.

Liver diseases Lung diseases Mutation Protease inhibitor Therapeutic substitution

Journal

Innere Medizin (Heidelberg, Germany)

ISSN: 2731-7099

Titre abrégé: Inn Med (Heidelb)

Pays: Germany

ID NLM: 9918384885306676

Informations de publication

Date de publication:
24 May 2024

Historique:

accepted: 29 04 2024

medline: 25 5 2024

pubmed: 25 5 2024

entrez: 24 5 2024

Statut: aheadofprint

Résumé

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. Der α

Autres résumés

Type: Publisher (ger)

Der α

Identifiants

DOI: 10.1007/s00108-024-01722-2 PMID: 38789803

pubmed: 38789803

doi: 10.1007/s00108-024-01722-2

pii: 10.1007/s00108-024-01722-2

doi:

Types de publication

English Abstract Journal Article Review

Langues

ger

Sous-ensembles de citation

Informations de copyright

Références

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