Thématique :
- Foie
Originalité :
Très original
Solidité :
Très solide
Doit faire évoluer notre pratique :
Dans certains cas
Nom du veilleur :
Docteur Jean-Louis PAYEN
Coup de coeur :
Journal of Hepatology
  2016 Aug;65(2):413-24  
  doi: 10.1016/j.jhep.2016.03.010  
  Update on alpha-1 antitrypsin deficiency: New therapies.  
  Lomas DA, Hurst JR, Gooptu B  

α1-Antitrypsin deficiency is characterised by the misfolding and intracellular polymerisation of mutant α1-antitrypsin within the endoplasmic reticulum of hepatocytes. The retention of mutant protein causes hepatic damage and cirrhosis whilst the lack of an important circulating protease inhibitor predisposes the individuals with severe α1-antitrypsin deficiency to early onset emphysema. Our work over the past 25years has led to new paradigms for the liver and lung disease associated with α1-antitrypsin deficiency. We review here the molecular pathology of the cirrhosis and emphysema associated with α1-antitrypsin deficiency and show how an understanding of this condition provided the paradigm for a wider group of disorders that we have termed the serpinopathies. The detailed understanding of the pathobiology of α1-antitrypsin deficiency has identified important disease mechanisms to target. As a result, several novel parallel and complementary therapeutic approaches are in development with some now in clinical trials. We provide an overview of these new therapies for the liver and lung disease associated with α1-antitrypsin deficiency.

Question posée
Actualités sur une pathologie rare le déficit en alpha-1- anti trypsine.
Question posée
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