Assuntos
Quelantes/efeitos adversos , Degeneração Hepatolenticular/complicações , Penicilamina/efeitos adversos , Pseudoxantoma Elástico/induzido quimicamente , Pseudoxantoma Elástico/complicações , Adulto , Quelantes/uso terapêutico , Feminino , Degeneração Hepatolenticular/tratamento farmacológico , Humanos , Penicilamina/uso terapêuticoRESUMO
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Assuntos
Humanos , Feminino , Adulto , Degeneração Hepatolenticular/complicações , Pseudoxantoma Elástico/induzido quimicamente , D-Penicilina (2,5)-Encefalina/efeitos adversos , Acetato de Zinco/uso terapêuticoRESUMO
La enfermedad de Wilson es un trastorno hereditario autosómico recesivo del metabolismo del cobre (gen ATP7B), que se caracteriza por la acumulación del mismo en diferentes órganos, principalmente el hígado y el cerebro. Es una enfermedad poco frecuente, difícil de diagnosticar en muchas ocasiones y con un espectro clínico muy amplio y, por lo tanto, debemos sospecharla siempre en un paciente con hepatopatía de causa no clara. En el siguiente artículo presentamos 2 pacientes con diferentes formas de manifestación de la enfermedad hepática, uno de ellos requirió trasplante hepático urgente por fallo hepático fulminante y el otro recibió tratamiento médico. El objetivo de esta observación clínica es analizar el diagnóstico de la enfermedad de Wilson en 2 pacientes en los que se inició de forma diferente y, por tanto, el amplio espectro clínico de la enfermedad y su tratamiento (AU)
Wilsons disease is a hereditary autosomal recessive disorder of copper metabolism, characterized by copper accumulation in the liver and brain. This rare entity, which has abroad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilsons disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment (AU)
Assuntos
Humanos , Feminino , Adulto , Degeneração Hepatolenticular/fisiopatologia , Falência Hepática Aguda/fisiopatologia , Cirrose Hepática/fisiopatologia , Transplante de Fígado , Ceruloplasmina/análise , Compostos de Zinco/uso terapêutico , D-Penicilina (2,5)-Encefalina/uso terapêuticoRESUMO
Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain. This rare entity, which has a broad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilson's disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment.
Assuntos
Degeneração Hepatolenticular/diagnóstico , Adulto , Cobre , Feminino , Humanos , Hepatopatias/diagnóstico , Pessoa de Meia-IdadeRESUMO
La neurofibromatosis tipo 1 (NF1) es una enfermedad multisistémica de herencia autosómica dominante, con penetrancia completa y expresividad variable. Afecta a uno de cada 3.000 individuos y se presenta en uno de cada 200 pacientes con retraso mental. Dentro de las múltiples complicaciones que asocia se encuentra la hemorragia digestiva secundaria a tumores mesenquimales gastrointestinales. Presentamos el caso de un paciente con NF1, ingresado por una hemorragia digestiva grave secundaria a un tumor yeyunal del estroma gastrointestinal (GIST), que presentó una buena evolución tras su exéresis quirúrgica (AU)
Neurofibromatosis type 1 (NF1) is a multisystemic disease with an autosomal dominant pattern of inheritance, complete penetrance and variable expressivity. This disease affects one in every 3,000 individuals and one out of every 200 patients with mental retardation. Gastrointestinal bleeding secondary to gastrointestinal mesenchymal tumors is one of the many complications associated with NF1. We report the case of a patient with NF1 admitted to hospital for severe gastrointestinal hemorrhage secondary to a jejunal gastrointestinal stromal tumor (GIST) with favorable outcome after surgical removal (AU)
