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

dc.rights.licenseopenen_US
dc.contributor.authorCOUCHONNAL, Eduardo
dc.contributor.authorLION-FRANCOIS, Laurence
dc.contributor.authorGUILLAUD, Olivier
dc.contributor.authorHABES, Dalila
dc.contributor.authorDEBRAY, Dominique
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorLAMIREAU, Thierry
dc.contributor.authorBROUE, Pierre
dc.contributor.authorFABRE, Alexandre
dc.contributor.authorVANLEMMENS, Claire
dc.contributor.authorSOBESKY, Rodolphe
dc.contributor.authorGOTTRAND, Frederic
dc.contributor.authorBRIDOUX-HENNO, Laure
dc.contributor.authorDUMORTIER, Jerome
dc.contributor.authorBELMALIH, Abdelouahed
dc.contributor.authorPOUJOIS, Aurelia
dc.contributor.authorJACQUEMIN, Emmanuel
dc.contributor.authorBRUNET, Anne Sophie
dc.contributor.authorBOST, Muriel
dc.contributor.authorLACHAUX, Alain
dc.date.accessioned2021-07-15T12:42:47Z
dc.date.available2021-07-15T12:42:47Z
dc.date.issued2021-06-01
dc.identifier.issn0277-2116en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/109258
dc.description.abstractEnOBJECTIVES: To describe a cohort of Wilson's disease (WD) paediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. METHODS: Clinical data of 182 paediatric 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 one 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 33/39 patients or for neurological deterioration in 6/39 patients, mean UWDRS of the latter went from 90 ± 23.1 before 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 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.
dc.language.isoENen_US
dc.title.enPediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France
dc.typeArticle de revueen_US
dc.identifier.doi10.1097/mpg.0000000000003196en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed34091542en_US
bordeaux.journalJournal of Pediatric Gastroenterology and Nutritionen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03287236
hal.version1
hal.date.transferred2021-07-15T12:42:50Z
hal.exporttrue
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