RESUMO
OBJECTIVE: Wilson disease (WD) is a rare congenital disease that causes hepatic, neurological or lenticular degeneration due to the accumulation of copper. Sometimes it is incapacitating with implications in the quality of life of those affected and their families. The objective of this work was to identify the needs of medical staff and the social and emotional needs of patients with WD and their families. METHODS: A qualitative research was developed in the Valencian Region during 2015-2016, five interviews with medical staff and two focus groups were made, one with family members and another with patients using a script divided into: diagnosis, treatment, health care and quality of life. The information was collected in audio/video and transcribed. An analysis of discourse (professional vs family/affected) determining needs was made. RESULTS: Medical staff need more knowledge about this pathology. Better educational training for them would facilitate the diagnosis. Families and patients need more information about the guidelines for the treatment's administration and foods that should be excluded from the diet. The correct administration of the treatment will allow those affected to improve their quality of life with a total or partial recovery of their symptoms.. CONCLUSIONS: Peru has made significant progress in reducing chronic malnutrition in children, but it still represents a health problem due to high prevalence in the sierra and expansion to jungles districts in 2016. Policies and programs should continue and enhance to avoid the high burden of disease that generates malnutrition in the development of children.
OBJETIVO: La Enfermedad de Wilson (EW) es una patología rara congénita y hereditaria que se produce por acumulación de cobre en el organismo, degeneración crónica hepática, neurológica o lenticular. En ocasiones es incapacitante por lo que influye en la calidad de vida de afectados y familiares. El objetivo de este trabajo fue identificar las necesidades médicas, sociales y emocionales de pacientes y familiares. METODOS: Con metodología cualitativa se realizaron en la Comunitat Valenciana (CV), en 2015-2016, 5 entrevistas a profesionales sanitarios y 2 grupos de discusión, uno con familiares y otro con afectados. Se elaboró un guión estructurado en: diagnóstico, tratamiento, atención sanitaria y calidad de vida. La información se recogió en audio/video, previa autorización y se transcribió literalmente. Se realizó un análisis del discurso (profesionales vs. familiares/afectados) determinando necesidades y demandas concretas. RESULTADOS: Los profesionales se mostraron emocionalmente distantes de las necesidades emocionales de afectados y familiares y consideraron necesario disponer de mayor información para facilitar el diagnóstico precoz. Las familias expresaron preocupación sobre la adherencia al tratamiento, especialmente en adolescentes, y confusión sobre la importancia de seguir una dieta baja en cobre. Los afectados reconocieron tener dudas sobre la funcionalidad de la medicación. Los afectados neurológicamente se sintieron estigmatizados por las secuelas físicas de la enfermedad. CONCLUSIONES: Los sanitarios consideran que tener un mayor conocimiento sobre esta enfermedad facilitaría una detección precoz. Familiares y afectados necesitan indicaciones claras y especificadas sobre las pautas de administración del tratamiento y sobre los alimentos que deben excluir de la dieta.
Assuntos
Saúde da Família , Degeneração Hepatolenticular , Qualidade de Vida , Criança , Família , Feminino , Grupos Focais , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/psicologia , Degeneração Hepatolenticular/terapia , Humanos , Masculino , Corpo Clínico , Peru , Pesquisa Qualitativa , EspanhaRESUMO
Wilson's disease consists in a inborn error of metabolism with marked neuropsychiatric manifestations. These manifestations need to be correctly identified and treated. There are four neuropsychiatric symptoms clusters established for Wilson's disease patients: behavior and/or personality disorders, mood disorders, cognitive deficits, and psychotic manifestations. Although such patients are more commonly seen in neurological and hepatological settings, mental health professionals must keep in mind a high level of suspicion, once first presentations may be of psychiatric nature. This study presents a review of literature about neuropsychiatric aspects of Wilson's disease, emphasizing diagnostic issues. It is presented the case of a 26 years old male patient initially with psychiatric polimorfic symptoms. The treatment of this patient with electroconvulsive therapy is presented, adding a report of this therapeutic modality, applied to that case, to the two only previous records in the literature.
Assuntos
Eletroconvulsoterapia , Degeneração Hepatolenticular/psicologia , Degeneração Hepatolenticular/terapia , Transtornos Mentais/diagnóstico , Adulto , Degeneração Hepatolenticular/diagnóstico , Humanos , Masculino , Transtornos Mentais/terapiaRESUMO
Wilson's disease (hepatolenticular degeneration), a disease of genetic origin, is due to abnormal copper metabolism affecting many organs and systems, especially the liver and the nervous system. The initial symptoms can be exclusively or predominantly psychiatric, including psychotic features. Three cases are reported in which the clinical picture at the beginning was compatible with a psychiatric diagnosis. During hospitalization, before treatment, there were abnormal and spontaneous changes in the circadian rhythm of temperature, pulse, and blood pressure, recorded every 6 hours, with febrile peaks in the absence of infectious focus. Because the hypothalamus is important in the regulation of these autonomic functions, the hypothesis of a possible hypothalamic dysfunction was made, justifying a wide clinical and laboratory investigation that allowed the diagnosis of Wilson's disease. Alertness to circadian rhythm abnormalities in such cases may help the psychiatrist avoid an erroneous diagnosis.
Assuntos
Pressão Sanguínea , Temperatura Corporal , Transtornos Cronobiológicos/fisiopatologia , Transtornos Cronobiológicos/psicologia , Degeneração Hepatolenticular/fisiopatologia , Degeneração Hepatolenticular/psicologia , Adolescente , Pressão Sanguínea/fisiologia , Temperatura Corporal/fisiologia , Criança , Transtornos Cronobiológicos/diagnóstico , Diagnóstico Diferencial , Feminino , Degeneração Hepatolenticular/diagnóstico , Humanos , Pulso Arterial/psicologiaRESUMO
A degeneracao Hepatolenticular (ou Doenca de Wilson), que tem origem genetica e decorre de alteracao no metabolismo do cobre, pode iniciar-se, em alguns casos, exclusivamente com manifestacoes psiquicas, que podem simular entidades clinicas, tornando dificil o diagnostico etiologico. Neste trabalho sao relatados tres casos cuja sintomatologia inicial era compativel com diagnosticos psiquiatricos. Na epoca nao era conhecido tratamento especifico para a doenca, e as tres pacientes tiveram evolucao fatal. Com os recursos terapeuticos atuais, a doenca e controlavel, quando diagnosticada precocemente. Por este motivo, e importante que o psiquiatra esteja atento para a possibilidade desse diagnostico, principalmente quando, ao lado de alteracoes psiquicas, existem alteracoes motoras e/ou hepaticas.
Assuntos
Humanos , Feminino , Adolescente , Degeneração Hepatolenticular/diagnóstico , Sintomas Psíquicos/classificação , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/psicologiaRESUMO
Wilson's disease is a rare disorder with relatively few studies about long term evolutional aspects. The aim was to relate 4 cases emphasizing their polymorphic clinical and laboratorial aspects and the evolutional study of one of them for 33 years and whose treatment enabled the disappearance of the symptoms and the signals of the disease.