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Colegio de Medicos y Cirujanos República de Costa Rica

2011, Número 597

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Rev Med Cos Cen 2011; 68 (597)


Ataxia telangiectasia: Breve descripción clínica

Torres FJ

Idioma: Español
Referencias bibliográficas: 34
Paginas: 163-168
Archivo PDF: 367.12 Kb.


RESUMEN

La ataxia talengiectasia es un trastorno genético autosómico recesivo que se caracteriza por ataxia cerebelosa, telangiectasia oculocutánea e inmunodeficiencia. El gen de la ataxia telangiectasia (ATM) se localiza en 11q22.3, pertenece a una familia conservada de genes que controlan la reparación del ADN. La aparición de la ataxia troncal puede verse desde la lactancia y es progresiva. La inmunodeficiencia puede manifestarse clínicamente por una infección pulmonar crónica o de repetición que produce bronquiectasia. La persistencia de niveles altos de proteínas oncofetales en el suero facilita el diagnóstico. Los pacientes con ataxia telangiectasia tienen una alta incidencia de neoplasias malignas del sistema reticuloendotelial.


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