Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.

Mathias RuizFlorence LacailleJulien BerthillerPhilippe Joly Jérôme DumortierMadeleine AumarLaure Bridoux-HennoEmmanuel Jacquemin Thierry LamireauPierre BrouéChristine RivetAbdelouahed BelmalihLioara RestierColette Chapuis-CellierMarion BouchecareilhAlain Lachauxnull null

Published in: Liver international : official journal of the International Association for the Study of the Liver (2019)

Alpha-1 antitrypsin-deficient patients presenting with neonatal cholestasis were likely to develop severe liver disease. Some patients with non-homozygous ZZ genotype can develop severe liver disease, such as PISZ and M variants, when associated with predisposing factors. Further genetic studies will help to identify other factors involved in the development of liver complications.

Keyphrases

drug induced
early onset
copy number
young adults
risk factors
gene expression