Title :

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Author(s) :

Couchonnal, Eduardo [Auteur]
Hôpital Femme Mère Enfant [CHU - HCL] [HFME]
Lion-François, L. [Auteur]
Guillaud, O. [Auteur]
Habes, Dalila [Auteur]
Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
Debray, Dominique [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Lamireau, Thierry [Auteur]
CHU Bordeaux
Broué, Pierre [Auteur]
Centre Hospitalier Universitaire de Toulouse [CHU Toulouse]
Fabre, Alexandre [Auteur]
Hôpital de la Timone [CHU - APHM] [TIMONE]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Vanlemmens, Claire [Auteur]
Centre Hospitalier Régional Universitaire de Besançon [CHRU Besançon]
Sobesky, Rodolphe [Auteur]
Centre Hépato-Biliaire [Hôpital Paul Brousse] [CHB]
Gottrand, fréderic [Auteur]
Institute for Translational Research in Inflammation - U 1286 [INFINITE]
Bridoux-Henno, Laure [Auteur]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
Dumortier, Jérôme [Auteur]
Hôpital Edouard Herriot [CHU - HCL]
Belmalih, A. [Auteur]
Poujois, A. [Auteur]
Jacquemin, Emmanuel [Auteur]
Physiopathogénèse et Traitement des Maladies du Foie
Brunet, A. S. [Auteur]
Bost, M. [Auteur]
Lachaux, A. [Auteur]

Journal title :

Journal of Pediatric Gastroenterology and Nutrition

Abbreviated title :

J Pediatr Gastroenterol Nutr

Publication date :

2021-06-08

ISSN :

1536-4801

English keyword(s) :

copper
liver transplantation
Wilson disease

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Objectives: To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. Methods: Clinical data of 182 pediatric patients ...
Show more >Objectives: To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. Methods: Clinical data of 182 pediatric patients included in the French WD national registry from 01/03/1995 to 01/06/2019 were gathered. Results: Diagnosis of WD was made at a mean age of 10.7 ± 4.2 years (range 1–18 years). At diagnosis, 154 patients (84.6%) had hepatic manifestations, 19 (10.4%) had neurological manifestations, and 9 patients (4.9%) were asymptomatic. The p.His1069Gln mutation was the most frequently encountered (14% of patients). Neurological patients were diagnosed at least 1 year after they presented their first symptoms. At diagnosis, the median urinary copper excretion (UCE) was 4.2 μmol/24 hours (0.2–253). The first-line treatment was d-penicillamine (DP) for 131 (72%) patients, zinc salts for 24 (13%) patients, and Trientine for 17 (9%) patients. Liver transplantation was performed in 39 (21.4%) patients, for hepatic indications in 33 of 39 patients or for neurological deterioration in 6 of 39 patients, mean Unified Wilson's Disease Rating Scale of the latter went from 90 ± 23.1 before liver transplantation (LT) to 26.8 ± 14.1 (P < 0.01) after a mean follow-up of 4.3 ± 2.5 years. Overall survival rate at 20 years of follow-up was 98%, patient and transplant-free combined survival was 84% at 20 years. Conclusion: Diagnosis of WD can be challenging in children, particularly at the early stages of liver disease and in case of neurological presentation; hence the support of clinical scores and genetic testing is essential. Diagnosis at early stages and proper treatment ensure excellent outcomes, subject to good long-term treatment compliance. LT is a valid option for end-stage liver disease not responding to treatment and can be discussed for selected cases of neurological deterioration.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

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

Submission date :

2024-01-12T06:48:06Z
2024-02-28T14:45:05Z