PMID- 32558486
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231110
IS  - 2372-952X (Print)
IS  - 2372-952X (Electronic)
IS  - 2372-952X (Linking)
VI  - 7
IP  - 3
DP  - 2020 Jul
TI  - Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do 
      Poorly? What Do We Know So Far?
PG  - 172-181
LID - 10.15326/jcopdf.7.3.2019.0148 [doi]
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease caused by 
      mutations in the SERPINA1 gene and is associated with a decreased level of 
      circulating alpha-1 antitrypsin (AAT). Among all the known mutations in the 
      SERPINA1 gene, homozygous for the Z allele is well-known to result in both lung 
      and liver disease. Unlike the lung injury that occurs in adulthood with the 
      environment (notably, tobacco) as a co-factor, the hepatic damage is more 
      complicated. Despite a common underlying gene mutation, the liver disease 
      associated with AATD presents a considerable variability in the age-of-onset and 
      severity, ranging from transient neonatal cholestasis (in early childhood) to 
      cirrhosis and liver cancer (in childhood and adulthood). Given that all the 
      cofactors- genetics and/or environmental- have not been fully identified, it is 
      still impossible to predict which individuals with AATD may develop severe liver 
      disease. The discovery of these modifiers represents the major challenge for the 
      detection, diagnosis, and development of new therapies to provide alternative 
      options to liver transplantation. The aim of this current review is to provide an 
      updated overview of our knowledge on why some AATD patients associated with liver 
      damage progress poorly.
CI  - JCOPDF (c) 2020.
FAU - Bouchecareilh, Marion
AU  - Bouchecareilh M
AD  - National Institute of Health and Medical Research (INSERM), National Center for 
      Scientific Research (CNRS), University Bordeaux, Bordeaux Research In 
      Translational Oncology, BaRITOn, Bordeaux, France.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Chronic Obstr Pulm Dis
JT  - Chronic obstructive pulmonary diseases (Miami, Fla.)
JID - 101635411
PMC - PMC7857713
OTO - NOTNLM
OT  - alpha-1 antitrypsin deficiency
OT  - genetic factors
OT  - liver disease
OT  - modifiers
EDAT- 2020/06/20 06:00
MHDA- 2020/06/20 06:01
PMCR- 2020/05/08
CRDT- 2020/06/20 06:00
PHST- 2020/06/20 06:00 [pubmed]
PHST- 2020/06/20 06:01 [medline]
PHST- 2020/06/20 06:00 [entrez]
PHST- 2020/05/08 00:00 [pmc-release]
AID - 10.15326/jcopdf.7.3.2019.0148 [doi]
PST - ppublish
SO  - Chronic Obstr Pulm Dis. 2020 Jul;7(3):172-181. doi: 
      10.15326/jcopdf.7.3.2019.0148.