Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.
Mathias RuizFlorence LacailleJulien BerthillerPhilippe JolyJérôme DumortierMadeleine AumarLaure Bridoux-HennoEmmanuel JacqueminThierry LamireauPierre BrouéChristine RivetAbdelouahed BelmalihLioara RestierColette Chapuis-CellierMarion BouchecareilhAlain Lachauxnull nullPublished 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.