PMID- 37993348
OWN - NLM
STAT- MEDLINE
DCOM- 20240401
LR  - 20240403
IS  - 1578-8989 (Electronic)
IS  - 0025-7753 (Linking)
VI  - 162
IP  - 7
DP  - 2024 Apr 12
TI  - Alpha-1 antitrypsin deficiency.
PG  - 336-342
LID - S0025-7753(23)00648-6 [pii]
LID - 10.1016/j.medcli.2023.10.014 [doi]
AB  - 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.
CI  - Copyright (c) 2023 The Author(s). Published by Elsevier Espana, S.L.U. All rights 
      reserved.
FAU - Dasi, Francisco
AU  - Dasi F
AD  - Universitat de Valencia, Facultad de Medicina, Departamento de Fisiologia, IIS 
      INCLIVA, Valencia, Spain. Electronic address: Francisco.Dasi@uv.es.
LA  - eng
LA  - spa
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20231122
PL  - Spain
TA  - Med Clin (Barc)
JT  - Medicina clinica
JID - 0376377
RN  - 0 (Biomarkers)
RN  - 0 (SERPINA1 protein, human)
SB  - IM
MH  - Adult
MH  - Child
MH  - Humans
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/therapy
MH  - Biomarkers
MH  - Lung
MH  - *Pulmonary Disease, Chronic Obstructive/diagnosis
OTO - NOTNLM
OT  - Alpha-1 antitrypsin deficiency
OT  - COPD
OT  - Cirrhosis
OT  - Cirrosis
OT  - Cancer de higado
OT  - Deficit de alfa-1 antitripsina
OT  - EPOC
OT  - Emphysema
OT  - Enfermedades raras respiratorias
OT  - Enfisema
OT  - Liver cancer
OT  - Rare respiratory diseases
EDAT- 2023/11/23 00:42
MHDA- 2024/04/01 06:42
CRDT- 2023/11/22 22:01
PHST- 2023/07/27 00:00 [received]
PHST- 2023/10/21 00:00 [revised]
PHST- 2023/10/24 00:00 [accepted]
PHST- 2024/04/01 06:42 [medline]
PHST- 2023/11/23 00:42 [pubmed]
PHST- 2023/11/22 22:01 [entrez]
AID - S0025-7753(23)00648-6 [pii]
AID - 10.1016/j.medcli.2023.10.014 [doi]
PST - ppublish
SO  - Med Clin (Barc). 2024 Apr 12;162(7):336-342. doi: 10.1016/j.medcli.2023.10.014. 
      Epub 2023 Nov 22.