Ataxia-telangiectasia: una revisión desde la  etiopatogenia al manejo actual con descripción  de casos reportados en Perú

Ismael Araujo-Aliaga; Franciz Velásquez-Cruz; Wilfor Aguirre-Quispe; Angélica López-Saavedra; Elison Sarapura-Castro; Mario Cornejo-Olivas

doi:10.20453/rnp.v86i1.4463

Ismael Araujo-Aliaga Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. https://orcid.org/0000-0002-8661-9351
Franciz Velásquez-Cruz Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Perú https://orcid.org/0000-0001-9661-0927
Wilfor Aguirre-Quispe Neurosciences, Clinical Effectiveness and Public Health Research Group. Universidad Científica del Sur. Lima, Perú. https://orcid.org/0000-0002-6677-0900
Angélica López-Saavedra Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Facultad de Medicina Humana, Universidad Nacional Mayor de San Marcos. Lima, Perú https://orcid.org/0000-0002-5235-9117
Elison Sarapura-Castro Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Perú https://orcid.org/0000-0002-1562-3062
Mario Cornejo-Olivas Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Perú. Universidad Científica del Sur. Lima, Perú https://orcid.org/0000-0001-6313-5680

DOI: https://doi.org/10.20453/rnp.v86i1.4463

Palabras clave: Ataxia, ataxia telangiectasia, proteínas de la ataxia telangiectasia mutada

Resumen

La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y de afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado de neoplasias con o sin telangiectasias óculo-cutáneas. La AT es causada por variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa en la sospecha de un cuadro clínico compatible, niveles elevados de alfafetoproteína, atrofia cerebelosa y estudios genéticos. No existe tratamiento curativo de AT y su manejo se basa en medidas de soporte y prevención de complicaciones y asesoramiento genético. En esta revisión, actualizamos la epidemiología, manifestaciones clínicas, diagnóstico y tratamiento de AT incluyendo una búsqueda de casos publicados en el Perú.

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