Abordaje integral de pacientes costarricenses afectados con la enfermedad de Huntington y sus familiares
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Vásquez Cerdas, Melissa
Campos Ramírez, Domingo
Gutiérrez Doña, Benicio
Fernández Morales, Húberth
Morales Montero, Fernando
Cuenca Berger, Patricia
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Abstract
Objetivo: Realizar el diagnóstico molecular a personas afectadas con la enfermedad de
Huntington y familiares con el 50% de riesgo, y brindarles asesoramiento genético, seguimiento
y evaluación psicológica y clínica, con el fn de mejorar su calidad de vida y prevenir la ocurrencia
y recurrencia de la enfermedad de Huntington.
Métodos: Diagnóstico molecular a pacientes con diagnóstico clínico, familiares asintomáticos
con 50% de riesgo y pacientes con diagnóstico confuso. Se les brindó asesoramiento genético y
evaluación psicológica. Los pacientes positivos que no tenían un control regular fueron referidos
al neurólogo.
Resultados: El diagnóstico molecular se realizó a 64 personas (35 mujeres y 29 hombres). De
estas, seis tenían diagnóstico clínico de Huntington, el cual se confrmó, y 6 tenían diagnóstico
confuso; de estas últimas, cinco resultaron negativas para la enfermedad de Huntington, y una,
positiva. Las restantes 52 personas correspondían a familiares en riesgo, y de estas, 17 resultaron
ser portadoras. En total, 20 mujeres y 17 hombres fueron efectivamente evaluados en el nivel
psicológico. Los análisis moleculares mostraron un perfl de repeticiones similar al de otras
poblaciones.
Conclusión: El diagnóstico molecular es de gran ayuda, pues algunas enfermedades pueden
confundirse con la de Huntington. El diagnóstico presintomático cubre satisfactoriamente las
siguientes expectativas de las personas: aliviar la incertidumbre, planear el cuidado de la salud y
conocer si los hijos tienen riesgo. En general, no se ha encontrado grandes diferencias entre las
personas evaluadas en el nivel psicológico, ya sea que porten un diagnóstico molecular positivo
o negativo.
Aim: To perform the molecular diagnosis to affected persons and their relatives at 50% risk of Huntington’s Disease and to give genetic counselling, psychological and clinical follow-up. This will improve the clinical management of the patients that could be translated into a better quality of life for them and their families.Methods: Molecular diagnosis for patients with clinical diagnosis of Huntington, their asymptomatic relatives at 50% risk and patients with an unclear diagnosis. The patients received genetic counselling and psychological evaluation. Positive patients for the mutation, both symptomatic and asymptomatic, who did not have a regular medical control, were referred to the neurologist for an adequate clinical management. Results: So far, 64 individuals have been studied (35 women and 29 men) belonging to 11 unrelated and different families. Clinical diagnosis of Huntington was confrmed in six of these patients; another six patients who had an unclear diagnosis were tested but only one of them was confrmed as having Huntington. From 52 individuals at risk, 17 resulted positive for the mutation. So far, 20 women and 17 men have been evaluated at the psychological level. There are other diseases similar to Huntington, therefore, molecular diagnosis is a helpful tool in order to establish the right clinical diagnosis. Conclusion:According to our experience, pre-symptomatic testing fully addresses the following individual’s expectancies: uncertainty relief, knowledge of the risk of transmitting the disease to their children and health care planning in the coming years. No differences were found among individuals assessed at the psychological level with a positive or negative molecular diagnosis.
Aim: To perform the molecular diagnosis to affected persons and their relatives at 50% risk of Huntington’s Disease and to give genetic counselling, psychological and clinical follow-up. This will improve the clinical management of the patients that could be translated into a better quality of life for them and their families.Methods: Molecular diagnosis for patients with clinical diagnosis of Huntington, their asymptomatic relatives at 50% risk and patients with an unclear diagnosis. The patients received genetic counselling and psychological evaluation. Positive patients for the mutation, both symptomatic and asymptomatic, who did not have a regular medical control, were referred to the neurologist for an adequate clinical management. Results: So far, 64 individuals have been studied (35 women and 29 men) belonging to 11 unrelated and different families. Clinical diagnosis of Huntington was confrmed in six of these patients; another six patients who had an unclear diagnosis were tested but only one of them was confrmed as having Huntington. From 52 individuals at risk, 17 resulted positive for the mutation. So far, 20 women and 17 men have been evaluated at the psychological level. There are other diseases similar to Huntington, therefore, molecular diagnosis is a helpful tool in order to establish the right clinical diagnosis. Conclusion:According to our experience, pre-symptomatic testing fully addresses the following individual’s expectancies: uncertainty relief, knowledge of the risk of transmitting the disease to their children and health care planning in the coming years. No differences were found among individuals assessed at the psychological level with a positive or negative molecular diagnosis.
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Keywords
Costa Rica, Asesoramiento genético, Enfermedad de Huntington, Diagnóstico molecular, Neuropsicología, 612.825 Cerebro
Citation
http://actamedica.medicos.cr/index.php/Acta_Medica/article/view/756