Alpha-1-Antitrypsin Deficiency Liver Disease.

@article{Patel2018Alpha1AntitrypsinDL,
  title={Alpha-1-Antitrypsin Deficiency Liver Disease.},
  author={Dhiren Patel and Jeffrey H. Teckman},
  journal={Clinics in liver disease},
  year={2018},
  volume={22 4},
  pages={
          643-655
        }
}
Development of an RNAi therapeutic for alpha-1-antitrypsin liver disease.
TLDR
In mice, sustained RNAi treatment reduced hepatic Z-AAT polymer, restored ER and mitochondrial health, normalized expression of disease-associated genes, reduced inflammation and prevented tumor formation, and RNAi therapy holds promise for the treatment of patients with AATD-associated liver disease.
Liver Cirrhosis Secondary to Autoimmune Hepatitis in a Patient with Alpha-1 Antitrypsin ZZ Phenotype: A "Double Hit" Phenomenon
TLDR
The case of a young 28-year-old female who was initially followed for thrombocytopenia and was found to have cirrhosis of the liver with autoimmune histological features is presented suggesting the possibility that another “second hit” can contribute to a more rapid progression of liver disease.
Alpha-1 Antitrypsin Deficiency: a Rare Disease?
TLDR
This review focuses on the current state of knowledge of AATD, including the wide range of presentations, diagnosis, and clinical management, and discusses the relevance of heterozygous state with mild or moderate A ATD in the development of both lung and liver disease.
Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency
TLDR
This study defines the hepatobiliary phenotype of individuals with the most relevant AATD genotypes including their predisposition to liver tumours, thereby allowing evidence-based advice and individualised hepatological surveillance.
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
TLDR
The SERPINA1 mutation spectrum is revisited, with a greater emphasis on variants fitting the aforementioned processes of AATD pathogenesis, and those selected were selected based on their clinical significance and wider geographic distribution.
DEFI‐ALFA: The French key to the alpha1 mystery?
  • M. Fromme, M. Oliverius, P. Strnad
  • Medicine, Biology
    Liver international : official journal of the International Association for the Study of the Liver
  • 2019
TLDR
The article from Ruiz et al, describing a large, multi‐centre French cohort of pediatric AATD cases, represents an important and badly needed step in the right direction.
Mild Iron Overload as Seen in Individuals Homozygous for the Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver Fibrogenesis in HFE Knockout Mice
TLDR
Neither mild iron overload seen in these individuals nor the presence of HFE mutations constitute a major contributor to liver fibrosis development, but Pi*ZZ individuals display minor alterations in serum iron parameters.
Alpha-1 Antitrypsin Replacement in Patients With COPD.
TLDR
Patients with COPD or adult-onset asthma are encouraged to undergo aggressive screening for Alpha-1 antitrypsin deficiency, which is a significant risk factor for COPD development and progression.
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TLDR
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A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.
TLDR
Biochemical characteristics of alpha 1-AT Z degradation in the protected hosts were found to be similar to those of a common ER degradation pathway previously described in model experimental cell systems for T-cell receptor alpha subunits and asialoglycoprotein receptor subunits, raising the possibility that the lag in degradation in a susceptible host is a defect in this commonER degradation pathway.
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