Title :

Liver disease related to alpha1-antitrypsin deficiency in french children: the defi-alpha cohort

Author(s) :

Ruiz, Mathias [Auteur]
Université Claude Bernard Lyon 1 [UCBL]
Lacaille, Florence [Auteur]
Gastro-Entérologie, Hépatologie et Nutrition pédiatriques [CHU Necker - Enfants Malades [AP-HP]]
Berthiller, Julien [Auteur]
Pôle Information Médicale Evaluation Recherche [IMER]
Joly, Philippe [Auteur]
Université Claude Bernard Lyon 1 [UCBL]
Dumortier, Jerome [Auteur]
Hospices Civils de Lyon [HCL]
Aumar, Madeleine [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Bridoux-Henno, Laure [Auteur]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
Jacquemin, Emmanuel [Auteur]
Université Paris-Sud - Paris 11 [UP11]
Lamireau, Thierry [Auteur]
Université de Bordeaux [UB]
Broue, Pierre [Auteur]
Centre Hospitalier Universitaire de Toulouse [CHU Toulouse]
Rivet, Christine [Auteur]
Hospices Civils de Lyon [HCL]
Belmalih, Abdelouahed [Auteur]
Hospices Civils de Lyon [HCL]
Restier, Lioara [Auteur]
Hospices Civils de Lyon [HCL]
Chapuis-Cellier, Colette [Auteur]
Université Claude Bernard Lyon 1 [UCBL]
Bouchecareilh, Marion [Auteur]
Bordeaux Research In Translational Oncology [Bordeaux] [BaRITOn]
Lachaux, Alain [Auteur]
Université Claude Bernard Lyon 1 [UCBL]

Journal title :

Liver International

Abbreviated title :

Liver Int.

Volume number :

39

Pages :

1136-1146

Publication date :

2019-06

ISSN :

1478-3231

English keyword(s) :

liver enzyme
liver transplantation
metabolic liver disease
cirrhosis

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. Retrospective, then prospective from 2010, multicentre study including ...
Show more >To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. 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. 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 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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Inserm
Université de Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Submission date :

2024-01-30T10:27:37Z
2024-04-05T09:24:35Z