Caso clínico: cuidados de enfermería a una paciente con enfermedad de Wilson / Clinical case: nursing care to a patient with Wilson's disease

La enfermedad de Wilson o degeneración hepatolenticular es un trastorno congénito de herencia autosómica recesiva del metabolismo del cobre (gen ATP7B) que produce una disminución de su excreción por vía biliar y, como consecuencia, un aumento de la concentración de cobre hepático y en tejidos extrahepáticos como cerebro, riñón y córnea, siendo este acúmulo el responsable de las manifestaciones clínicas. Al ser esta una enfermedad poco común y difícil de diagnosticar, dado su amplio espectro clínico, los facultativos han de sospechar su diagnóstico ante un paciente con hepatopatía de causa no clara. Cuando la detección de la enfermedad es precoz, el tratamiento es farmacológico, pero cuando la detección ocurre en fases avanzadas, o en individuos que no han respondido al tratamiento, la enfermedad puede evolucionar hacia un fallo hepático agudo grave, cuyo tratamiento definitivo es el trasplante hepático. En este artículo se presenta el caso clínico y el seguimiento de una paciente joven con hepatopatía no filiada y en la que se sospecha enfermedad de Wilson. Siguiendo el modelo conceptual de Virginia Henderson, se describen los problemas de colaboración y los diagnósticos de enfermería, presentando un plan de cuidados según la taxonomía NANDA (North American Nursing Asociación), NIC (Nursing Intervention Classification) y NOC (Nursing Outcomes Classification). En este caso, a la vez que se amplían conocimientos sobre la enfermedad, se establece un plan de cuidados que ayuda a la atención individualizada por parte de los profesionales a los pacientes afectos de dicha enfermedad (AU)

Wilson's disease or hepatolenticular degeneration is a congenital autosomal recessive disorder of cooper metabolism (ATP7B gene) which causes a decrease in biliary excretion and consequently, an increase in cooper concentration in hepatic and extrahepatic tissues such as brain, kidney and cornea. This accumulation is responsible for the clinical manifestations. Since this is a rare and difficult disease to diagnose given its wide clinical spectrum, doctors suspect this diagnosis on patients with liver disease of unclear cause. When detection of disease is early, treatment is pharmacological, but when detection occurs in advanced stages, or in individuals who have not responded to treatment, the disease can develop into an acute liver failure, whose definitive treatment is liver transplantation. In this article we present the clinical case and tracking of a young patient with liver disease of unknown origin, which is suspected of having Wilson's disease. Following the conceptual model of Virginia Henderson, collaboration problems and nursing diagnoses are described, presenting a care plan according to the NANDA taxonomy (North American Nursing Association), NIC (Nursing Intervention Classification), and NOC (Nursing Outcomes Classification). In this case, while disease knowledge expands, a care plan that helps individualized attention from professionals to patients affected by the disease is established (AU)

Cuidando da criança hospitalizada com doença de wilson: relato de experiência / Cuidando al niño hospitalizado con enfermedad de wilson: relato de experiencia / Taking care of hospitalized child with wilson's disease: experience report

RESUMO O processo de hospitalização pode trazer à criança sofrimento psicológico e físico, principalmente quando acometida por uma doença crônica e rara. Este trabalho tem como objetivo relatar a experiência acadêmica, enfatizando a importância da implementação do processo de enfermagem na assistência a uma criança com Doença de Wilson. Trata-se de um estudo descritivo, tipo relato de experiência, desenvolvido na Clínica Pediátrica de um Hospital Escola do município de João Pessoa-PB. Os resultados demonstram que foi possível aos acadêmicos a elaboração de maneira estratégica das ações de enfermagem por meio da apropriação de informações sobre o caso e aproximação ao binômio; da efetivação de ações para o cuidado de enfermagem e da realização de ponderações sobre a assistência. Essa experiência permitiu reflexões a respeito do processo de cuidar, principalmente em casos de doenças raras, no intuito de despertar no discente a capacidade de "aprender a aprender" a partir da práxis.

RESUMEN El proceso de hospitalización puede llevar al niño sufrimiento psicológico y físico, sobre todo cuando acometido por una enfermedad crónica y rara. Este estudio tiene como objetivo informar sobre la experiencia académica, haciendo hincapié en la importancia de la aplicación del proceso de enfermería en el cuidado a un niño con la Enfermedad de Wilson. Se trata de un estudio descriptivo tipo relato de experiencia, desarrollado en la Clínica Pediátrica de un Hospital Escuela, de la ciudad de João Pessoa - PB, Brasil. Los resultados muestran que fue posible para los académicos la elaboración de forma estratégica de las acciones de enfermería a través de la apropiación de informaciones sobre el caso y aproximación al binomio; de la efectuación de acciones la atención de enfermería y la realización de consideraciones sobre la atención. Esta experiencia permitió reflexiones sobre el proceso de cuidar, sobre todo en los casos de enfermedades raras, con el objetivo de despertar en el estudiante la capacidad de aprender a aprender a partir de la praxis.

ABSTRACT The hospitalization process can bring psychological and physical suffering to the child, especially when affected by a chronic and rare disease. This study aims to report the academic experience, emphasizing the importance of implementing the nursing process in assisting a child with Wilson's disease. This is a descriptive study of experience report type, developed at the Pediatric Clinic of a Teaching Hospital in the city of Joao Pessoa - PB. The results show that the academics were able to strategically develop nursing actions through the appropriation of information about the case and approach to the binomial, the conduction of actions for the nursing care and the realization of questioning on the care. This experience has allowed reflections on the care process, especially in cases of rare diseases in order to awakening in students the ability to "learn to learn" from practice.

Liver transplantation: treatment of choice for hepatic and neurological manifestation of Wilson's disease.

Liver transplantation (LTX) is an approved method to treat patients with end-stage liver cirrhosis and acute liver failure due to Wilson's disease. Initially, there was some consideration about the indication for LTX in the case of Wilson's disease with severe neurological impairment but normal liver function. From 1988 until 1995, 13 out of 700 LTX (1.9%) were performed for Wilson's disease. Indications for LTX were (I) intractable neurological impairment with normal liver function (n = 4; including one patient with Child A cirrhosis), (II) fulminant hepatic failure (n = 3), and (III) end-stage liver cirrhosis (n = 6) (Child B, n = 1; Child C, n = 5). There were 8 females and 5 males with a mean age of 27 yr (range 15-34 yr). All patients of group I required continuous nursing care before LTX, in spite of pretreatment with d-penicillamine and zinc. The most frequent symptoms in these patients were dysphagia (n = 4), dysarthria (n = 4), tremor (n = 4), sialorrhea (n = 3), ataxia (n = 3), dystonia (n = 3) and handwriting difficulties (n = 3). All patients of group II presented with hemolytic anemia. The survival rate was 100%, and all patients were doing well after a mean follow-up period of 32.8 months (range 8-68 months). The postoperative course was without severe infectious and other complications. All patients of group I revealed the first signs of improvement for all types of neurological symptoms 4-6 wk after LTX. One patient has been without any symptoms from 18 months until 5.5 yr after LTX. Two patients with short-term follow-up also had noticeable improvement of neurological impairment, but residual symptoms are still present. One patient showed only slight improvement. We conclude that Wilson's disease may be a good indication for LTX for both neurological manifestation with stable liver function and hepatic manifestation with cirrhosis or acute liver failure.

Restoring childhood through rehabilitation.

Nine-year-old Alesha's symptoms began with tingling in her hands, and within a few months she could neither walk nor talk. Alesha has Wilson's disease, a rare genetic condition that results in a progressive buildup of copper in the body. Alesha lost 2 years of her life to Wilson's disease. This article focuses on the clinical and rehabilitation aspects of Wilson's disease and on the efforts to restore to Alesha the childhood the disease cost her. Nursing care for Alesha involved physiological, developmental, and restorative components, with special attention to the home pediatric rehabilitation program.

Wilson's disease: how it changed a young woman's life.

Wilson's disease is an inherited disorder which affects the body's ability to metabolize copper. The resulting copper toxicosis can involve all body organs but especially the liver, brain, cornea and kidneys. This article presents a review of the disease and a case study demonstrating how the disease changed a young woman's life, presenting many challenges to her, her family, her nurses and other care providers.

Wilson's disease: a genetic disorder of copper metabolism.

This article provides an overview of Wilson's disease, a rare genetic disorder of copper metabolism. The etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of the disease are discussed. A nursing care plan is presented.