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

dc.rights.licenseopenen_US
dc.contributor.authorRUIZ, M.
dc.contributor.authorLACAILLE, F.
dc.contributor.authorBERTHILLER, J.
dc.contributor.authorJOLY, P.
dc.contributor.authorDUMORTIER, J.
dc.contributor.authorAUMAR, M.
dc.contributor.authorBRIDOUX-HENNO, L.
dc.contributor.authorJACQUEMIN, E.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorLAMIREAU, Thierry
dc.contributor.authorBROUE, P.
dc.contributor.authorRIVET, C.
dc.contributor.authorBELMALIH, A.
dc.contributor.authorRESTIER, L.
dc.contributor.authorCHAPUIS-CELLIER, C.
dc.contributor.authorBOUCHECAREILH, M.
dc.contributor.authorLACHAUX, A.
dc.date.accessioned2020-07-10T15:14:35Z
dc.date.available2020-07-10T15:14:35Z
dc.date.issued2019-06
dc.identifier.issn1478-3223en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/10418
dc.description.abstractEnBACKGROUND & AIMS: To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. METHODS: Retrospective, then prospective from 2010, multicentre study including children known to have alpha-1 antitrypsin blood concentration below 0.8 g/L, born in France since 1989. Clinical and biological data were collected. Liver disease was classified as "severe" (portal hypertension, liver failure, liver transplantation or death); "moderate" (persistent abnormal liver biology without portal hypertension); and "mild/none" (normal or almost normal liver biology and native liver). Prognostic factors for severe liver disease were evaluated using a Cox semiparametric model. RESULTS: In January 2017, 153 patients from 19 centres had been included; genotypes were PIZZ in 81.9%, PISZ in 8.1%, other in 10.0%. Mean +/- SD follow-up was 4.7 +/- 2.1 years. Half of patients had moderate liver disease. Twenty-eight children (18.3%) had severe liver disease (mean age 2.5 years, range: 0-11.6): diagnosis of alpha-1 antitrypsin deficiency was made before two months of age in 65.4%, genotypes were PIZZ in 25 (89.3%), PISZ in 2, PIMlike Z in 1, 15 children underwent liver transplantation, 1 child died at 3 years of age. Neonatal cholestasis was significantly associated with severe liver disease (P = 0.007). CONCLUSION: 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.
dc.language.isoENen_US
dc.subject.enLEHA
dc.title.enLiver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort
dc.title.alternativeLiver Inten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/liv.14035en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30589493en_US
bordeaux.journalLiver internationalen_US
bordeaux.page1136-1146en_US
bordeaux.volume39en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue6en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamLEHA_BPH
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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