Wilson disease in Northern Portugal: a long-term follow-up study.
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
23 02 2022
23 02 2022
Historique:
received:
16
11
2021
accepted:
13
02
2022
entrez:
24
2
2022
pubmed:
25
2
2022
medline:
14
4
2022
Statut:
epublish
Résumé
Wilson disease is an autosomal recessive disease of liver copper metabolism with predominant hepatic and neurological manifestations. Long-term data on the clinical follow-up and treatment efficacy are limited due to the low frequency of the disease. We evaluated a large cohort of Wilson disease patients from Northern Portugal during a 20-year follow-up period. Twenty-four patients, diagnosed from 1975 to 2020 in a tertiary care center in Portugal, were retrospectively evaluated according to their clinical presentation, therapies and outcomes. Most of the patients were males (54%), with a median age at diagnosis of 19 years old (interquartile range 15-25). The main manifestations of Wilson disease were hepatic (71%) and neurological (25%). Family history was positive in 5 (21%) patients. Four patients (17%) presented with acute liver failure and fifteen (63%) individuals had cirrhosis at diagnosis. Penicillamine therapy was used by 11 (46%) patients, while trientine and zinc were given to 8 (33%) and 1 (4%) patient, respectively. Ten (42%) individuals underwent liver transplantation. The majority of patients (83%) had stable disease or improved outcomes during follow-up. This is the largest cohort of adult patients with Wilson disease reported in Northern Portugal. We show that Wilson disease has favorable outcomes with long overall survival, assuming adherence to therapy and lack of other insults to their liver.
Identifiants
pubmed: 35197085
doi: 10.1186/s13023-022-02245-5
pii: 10.1186/s13023-022-02245-5
pmc: PMC8867740
doi:
Substances chimiques
Copper
789U1901C5
Penicillamine
GNN1DV99GX
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
82Informations de copyright
© 2022. The Author(s).
Références
Ann Transl Med. 2019 Apr;7(Suppl 2):S73
pubmed: 31179310
J Hepatol. 2018 Aug;69(2):406-460
pubmed: 29653741
Hepatology. 2018 Apr;67(4):1261-1269
pubmed: 28859232
Transplant Proc. 2000 Dec;32(8):2668
pubmed: 11134754
Dis Mon. 2014 Sep;60(9):465-74
pubmed: 25234180
Nat Rev Dis Primers. 2018 Sep 6;4(1):21
pubmed: 30190489
J Clin Med. 2021 Oct 30;10(21):
pubmed: 34768617
J Hepatol. 2012 Mar;56(3):671-85
pubmed: 22340672
Ann Transl Med. 2019 Apr;7(Suppl 2):S56
pubmed: 31179293
Liver Transpl. 2020 Apr;26(4):507-516
pubmed: 31901209
J Gastroenterol Hepatol. 2015 Mar;30(3):535-9
pubmed: 25160780
Clin Res Hepatol Gastroenterol. 2016 Jun;40(3):349-356
pubmed: 26549350
Mov Disord. 2007 Nov 15;22(15):2216-20
pubmed: 17712859
Therap Adv Gastroenterol. 2017 Nov;10(11):889-905
pubmed: 29147139
World J Hepatol. 2015 Dec 18;7(29):2859-70
pubmed: 26692151
J Health Econ Outcomes Res. 2021 Dec 8;8(2):105-113
pubmed: 34963883
J Acad Consult Liaison Psychiatry. 2021 Sep-Oct;62(5):528-537
pubmed: 34044196
Hepatology. 2020 Feb;71(2):722-732
pubmed: 31449670
Ann Transl Med. 2021 Sep;9(17):1394
pubmed: 34733946
Intern Med. 2004 Nov;43(11):1012-3
pubmed: 15609692