Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases.
Doença de Wilson: o desafio diagnóstico e resultados do tratamento em uma série de 262 casos.
Humans
Hepatolenticular Degeneration
/ genetics
Retrospective Studies
Female
Male
Adolescent
Child
Adult
Copper-Transporting ATPases
/ genetics
Young Adult
Penicillamine
/ therapeutic use
Treatment Outcome
Middle Aged
Adenosine Triphosphatases
/ genetics
Mutation
Genotype
Magnetic Resonance Imaging
Chelating Agents
/ therapeutic use
Cation Transport Proteins
/ genetics
Copper
Journal
Arquivos de neuro-psiquiatria
ISSN: 1678-4227
Titre abrégé: Arq Neuropsiquiatr
Pays: Germany
ID NLM: 0125444
Informations de publication
Date de publication:
May 2024
May 2024
Historique:
medline:
30
5
2024
pubmed:
30
5
2024
entrez:
29
5
2024
Statut:
ppublish
Résumé
Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations. To describe the diagnostic features and response to treatment in our cohort of WD patients. This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, Symptoms occurred at an average age of 17.4 (7-49) years, and patients were followed up for an average of 9.6 (0-45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include A doença de Wilson (DW) é um distúrbio autossômico recessivo caracterizado por acúmulo de cobre lesivo aos órgãos. O diagnóstico precoce é dificultado pela raridade e diversidade de apresentações. Descrever características ao diagnóstico e resposta ao tratamento em uma coorte de DW. MéTODOS: Análise retrospectiva de 262 casos de DW quanto à apresentação clínica, exames complementares, genotipagem e resposta ao tratamento. Os sintomas surgiram em uma média aos 17,4 (7–49) anos, e os pacientes foram acompanhados por uma média de 9,6 (0–45) anos. Os pacientes apresentaram principalmente formas hepáticas (36,3%), neurológicas (34,7%) e neuropsiquiátricas (8,3%). Outras apresentações foram hematológicas, renais e musculoesqueléticas. Apenas 16,8% eram assintomáticos. Anéis de Kayser-Fleischer ocorreram em 78,3% dos pacientes, hipoceruloplasminemia em 98,3%, e cuprúria elevada/24h em 73,0%, com aumento após D-penicilamina em 54,0%. Mutações do gene
Sections du résumé
BACKGROUND
BACKGROUND
Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.
OBJECTIVE
OBJECTIVE
To describe the diagnostic features and response to treatment in our cohort of WD patients.
METHODS
METHODS
This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams,
RESULTS
RESULTS
Symptoms occurred at an average age of 17.4 (7-49) years, and patients were followed up for an average of 9.6 (0-45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the
CONCLUSION
CONCLUSIONS
Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include
ANTECEDENTES
BACKGROUND
A doença de Wilson (DW) é um distúrbio autossômico recessivo caracterizado por acúmulo de cobre lesivo aos órgãos. O diagnóstico precoce é dificultado pela raridade e diversidade de apresentações.
OBJETIVO
OBJECTIVE
Descrever características ao diagnóstico e resposta ao tratamento em uma coorte de DW. MéTODOS: Análise retrospectiva de 262 casos de DW quanto à apresentação clínica, exames complementares, genotipagem e resposta ao tratamento.
RESULTADOS
RESULTS
Os sintomas surgiram em uma média aos 17,4 (7–49) anos, e os pacientes foram acompanhados por uma média de 9,6 (0–45) anos. Os pacientes apresentaram principalmente formas hepáticas (36,3%), neurológicas (34,7%) e neuropsiquiátricas (8,3%). Outras apresentações foram hematológicas, renais e musculoesqueléticas. Apenas 16,8% eram assintomáticos. Anéis de Kayser-Fleischer ocorreram em 78,3% dos pacientes, hipoceruloplasminemia em 98,3%, e cuprúria elevada/24h em 73,0%, com aumento após D-penicilamina em 54,0%. Mutações do gene
Autres résumés
Type: Publisher
(por)
A doença de Wilson (DW) é um distúrbio autossômico recessivo caracterizado por acúmulo de cobre lesivo aos órgãos. O diagnóstico precoce é dificultado pela raridade e diversidade de apresentações.
Identifiants
pubmed: 38811021
doi: 10.1055/s-0044-1786855
doi:
Substances chimiques
Copper-Transporting ATPases
EC 7.2.2.8
ATP7B protein, human
EC 7.2.2.8
Penicillamine
GNN1DV99GX
Adenosine Triphosphatases
EC 3.6.1.-
Chelating Agents
0
Cation Transport Proteins
0
Copper
789U1901C5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-9Subventions
Organisme : Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
ID : 06/00499-1
Informations de copyright
The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).
Déclaration de conflit d'intérêts
There is no conflict of interest to declare.