Reporte de caso: Enfermedad de Wilson, un reto diagnóstico
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Fecha
2019
Autores
Navarro Navarro, Jaime
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias Básicas y Biomédicas
Facultad de Ciencias Básicas y Biomédicas
Resumen
La enfermedad de Wilson es un trastorno genético de transmisión autosómica recesiva, producida por la mutación del gen ATP7B. Es considerada una enfermedad rara o huérfana debido a su baja prevalencia. Sin embargo, es una enfermedad crónica que puede llevar al deterioro de la calidad de vida del paciente poniéndolo en riesgo de muerte, por lo que se considera una enfermedad catastrófica. El gen ATP7B es determinante en el proceso de eliminación del cobre del organismo, por tanto, la mutación génica implica a su acumulación principalmente en el hígado y Sistema Nervioso Central (SNC). El diagnóstico de la enfermedad en etapas tempranas es vital para el control de los síntomas y evitar el deterioro hepático, neurológico y/o psiquiátrico del paciente. Sin embargo, la inespecificidad de los síntomas, así como la tardía edad de inicio de estos, dificulta su diagnóstico oportuno. La detección de los signos clínicos de la enfermedad y las anomalías genéticas asociadas, son necesarias para iniciar un tratamiento efectivo, si bien la enfermedad no es curable, el tratamiento farmacológico oportuno con medicamentos quelantes, minimizan los efectos del cobre en el organismo.
Wilson's disease is an autosomal recessive genetic transmission disorder, caused by the mutation of the ATP7B gene. It is considered a rare or orphan disease due to its low prevalence. However, it is a chronic disease that can lead to the deterioration of the patient's quality of life putting him at risk of death, which is why it is considered a catastrophic disease. The ATP7B gene is decisive in the process of eliminating copper from the body, therefore, gene mutation leads to its accumulation mainly in the liver and Central Nervous System (CNS). The diagnosis of the disease in early stages is vital for the control of the symptoms and to avoid the hepatic, neurological and / or psychiatric deterioration of the patient. However, the non-specificity of the symptoms, as well as the late age of onset of these, hinders their timely diagnosis. The detection of the clinical signs of the disease and the associated genetic abnormalities, are necessary to initiate an effective treatment, although the disease is not curable, the timely pharmacological treatment with chelating drugs minimizes the effects of copper in the organism
Wilson's disease is an autosomal recessive genetic transmission disorder, caused by the mutation of the ATP7B gene. It is considered a rare or orphan disease due to its low prevalence. However, it is a chronic disease that can lead to the deterioration of the patient's quality of life putting him at risk of death, which is why it is considered a catastrophic disease. The ATP7B gene is decisive in the process of eliminating copper from the body, therefore, gene mutation leads to its accumulation mainly in the liver and Central Nervous System (CNS). The diagnosis of the disease in early stages is vital for the control of the symptoms and to avoid the hepatic, neurological and / or psychiatric deterioration of the patient. However, the non-specificity of the symptoms, as well as the late age of onset of these, hinders their timely diagnosis. The detection of the clinical signs of the disease and the associated genetic abnormalities, are necessary to initiate an effective treatment, although the disease is not curable, the timely pharmacological treatment with chelating drugs minimizes the effects of copper in the organism
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Palabras clave
Enfermedades huérfanas, ATPasas Transportadoras de Cobre, Genotipo, Enfermedad de Wilson, Proteína ATP7A, Orphan diseases, Copper absorption, Genotype, Wilson's disease, ATP7B gene