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)

[Oral rehabilitation of a patient with Wilson-syndrome using MK1 bolt attachment. A case report]. / Wilson-szindróms beteg fogorvosi rehabilitációja MK1 finommechanikai rögzítovel. Esetismertetés.

The oral condition of neurologically compromised patients seemed to be worse as compared to the healthy population, which is confirmed by concrete data in case of epilepsy patients. The dental status of our 33 years old patient with Wilson-syndrome showed the same situation. The Wilson-syndrome is a hepatolenticular degeneration, with the disfunction of copper excretion in liver. Toxic dose of copper is accumulated in liver, in the nuclei of central nerve system, in kidneys, and in cornea. Deficiency of coeruloplasmin characterizes the disease which might occur in a form of acute hepatitis, chronic active hepatitis, cirrhosis or hepatosplenomegaly without any symptom. Initial symptoms might usually be extrahepatic, with the presence of the green and golden brown Kayser-Fleischer copper deposition. Treatment is necessary until the end of life, 1 g Penicillamine/ day. Our patient with Wilson-syndrome has been treated for 17 years at the Department of Neurology Semmelweis University. Dystonia, speech disorder, and intention tremor are rampant among his symptoms. At the time of admittance to dental clinic, both the upper and lower dental arches belonged to class 2B according to the Fábián and Fejérdy classification of partial edentulousness. After root canal fillings and cementation of dowel cores, an upper and lower fix and removable partial denture combination was made. Oral hygiene was controlled every three months. Dentures are worn for half a year without complaint.

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.

Long-term care and management of Wilson's disease in the GDR.

Diagnosis, long-term management and family investigations of Wilson's disease are provided by selected clinical institutions in the GDR. From 187 patients detected since 1949, 111 are alive. In spite of the principal effectiveness of penicillamine treatment, confirmed by the disappearance of most of the central nervous system symptoms and successful professional rehabilitation of many patients, insufficient therapeutic discipline, psychosocial disturbances and penicillamine side-effects forcing its substitution by zinc or triethylenetetramine dihydrochloride in 14 cases need our further attention.