REVISTA MÉDICA DE MINAS GERAIS - RMMG, Vol. 20, No 4 Especial (2010)

Tamanho da fonte:  Menor  Médio  Maior

Doença de Wilson (degeneração hepatolenticular): revisão bibliográfica e relato de caso

Afonso Carlos da Silva, Ana Paula Colósimo, Débora Salvestro

Resumo


RESUMO
Este estudo faz, inicialmente, revisão dos aspectos mais atuais referentes a conceito,
quadro clínico, diagnóstico e tratamento do distúrbio metabólico do cobre, definido
como doença de Wilson. E relata o caso clínico de um jovem acometido de uma sequência
de sintomas superpostos de origem gastrintestinal, neurológico e psiquiátrico.
Pela multiplicidade e gravidade dos sintomas, teve o diagnóstico final de transtorno
psicótico agudo polimórfico, com intensa inibição psicomotora. A partir de uma
análise integrada dos exames já solicitados, suspeitou-se de um distúrbio metabólico
de origem hereditária ou adquirida que justificasse simultaneamente os sintomas. O
distúrbio da excreção do cobre, doença de Wilson, veio justificar toda a sintomatologia
referida e foi confirmado a partir da dosagem sanguínea baixa de ceruloplasmina e da
presença dos anéis de Kaiser-Fleischer na córnea do paciente.
Palavras-chave: Cobre; Degeneração Hepatolenticular/diagnóstico; Degeneração
Hepatolenticular/terapia;

ABSTRACT
It will be initially revised by the authors the most actual aspects of the concept, clinical
situation, diagnosis and treatment concerning to a metabolic disturbance of the copper,
Wilson’s disease. Afterwards it will be described the clinical case of a young man
attacked of a sequence of superposed symptoms of gastrintestinal, neurological and
psychiatric origin. For the multiplicity and gravity of the symptoms acute polimórfico with
intense psicomotora inhibition had the final diagnosis of “psychotic Upheaval”. Starting
from an integrated analysis of the exams, it was suspected about a metabolic disturbance
of hereditary or acquired origin that justify all the symptoms simultaneously. The
disturbance of the excretion of copper, Wilson’s disease, came to justify all the referred
symptomatology and it was confirmed by the decrease sanguine dosage of ceruloplasmin,
the presence of rings of Kayser-Fleischer in the córnea of the patient and of neurological
lesion at the magnetic nuclear ressonance. The diagnosis of Wilson’s disease in
patients with simultaneous digestive (hepática cirrhosis), neurological and inexplicable
psychiatric disturbances will always have to be faneed because the precocious treatment
will mainly prevent serious and permanent organic damages for the liver and brain. The
specific treatment was initiated and the maintenance of exactly has provoked significant
improvements and a gradual new outbreak of the symptoms reintegrating the patient the
family and the society.
Key words: Hepatolenticular Degeneration/diagnosis; Hepatolenticular Degeneration/
therapy; Copper.

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