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- Title
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.
- Authors
Couchonnal, Eduardo; Lion-François, Laurence; Guillaud, Olivier; Habes, Dalila; Debray, Dominique; Lamireau, Thierry; Broué, Pierre; Fabre, Alexandre; Vanlemmens, Claire; Sobesky, Rodolphe; Gottrand, Frederic; Bridoux-Henno, Laure; Dumortier, Jérôme; Belmalih, Abdelouahed; Poujois, Aurelia; Jacquemin, Emmanuel; Brunet, Anne Sophie; Bost, Muriel; Lachaux, Alain
- Abstract
<bold>Objectives: </bold>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.<bold>Methods: </bold>Clinical data of 182 pediatric patients included in the French WD national registry from 01/03/1995 to 01/06/2019 were gathered.<bold>Results: </bold>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.<bold>Conclusion: </bold>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.
- Publication
Journal of Pediatric Gastroenterology & Nutrition, 2021, Vol 73, Issue 4, pe80
- ISSN
0277-2116
- Publication type
journal article
- DOI
10.1097/MPG.0000000000003196