Article: Déficit en alpha-1-antitrypsine.
2022 Volume 18, Issue 804, Page(s) 2169–2174
Abstract: Alpha-1 antitrypsin deficiency (DAAT) is a rare autosomal recessive genetic disorder caused by mutations in the Serpina1 gene. The role of alpha-1 antitrypsin (A1AT) is to maintain homeostasis in the acute phase of inflammation. DAAT manifests itself ... ...
Title translation | Alpha-1 antitrypsin deficiency. |
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Abstract | Alpha-1 antitrypsin deficiency (DAAT) is a rare autosomal recessive genetic disorder caused by mutations in the Serpina1 gene. The role of alpha-1 antitrypsin (A1AT) is to maintain homeostasis in the acute phase of inflammation. DAAT manifests itself primarily in carriers of the Z allele, especially in the homozygous state, as emphysema and chronic liver disease. Although the diagnostic strategy is well defined and screening is fully reimbursed, DAAT is still largely underdiagnosed. In addition to simple lifestyle advice, which is essential once the diagnosis has been made, the specific treatment for severe deficiency and lung involvement is based on substitution with purified human A1AT, which slows the development of pulmonary emphysema. |
MeSH term(s) | Humans ; alpha 1-Antitrypsin Deficiency/diagnosis ; alpha 1-Antitrypsin Deficiency/genetics ; alpha 1-Antitrypsin Deficiency/therapy ; alpha 1-Antitrypsin/genetics ; Mutation ; Inflammation |
Chemical Substances | alpha 1-Antitrypsin |
Language | French |
Publishing date | 2022-11-08 |
Publishing country | Switzerland |
Document type | English Abstract ; Journal Article |
ZDB-ID | 2177010-4 |
ISSN | 1660-9379 |
ISSN | 1660-9379 |
DOI | 10.53738/REVMED.2022.18.804.2169 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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