Ataxia-telangiectasia: una revisión desde la etiopatogenia al manejo actual con descripción de casos reportados en Perú / Ataxia telangiectasia: A review from etiopathogenesis to current management with a description of reported cases in Peru
Rev. neuro-psiquiatr. (Impr.)
; 86(1): 18-29, ene. 2023. ilus, tab
Article
in Es
| LILACS, LIPECS
| ID: biblio-1442081
Responsible library:
PE1.1
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.
ABSTRACT
Ataxia-Telangiectasia (AT) is a rare autosomal recessive disease with multisystemic involvement, characterized by slowly progressive ataxia, variable immunodeficiency with recurrent infections, increased risk of neoplasms with or without oculocutaneous telangiectasias. AT is caused by biallelic pathogenic variants within the ATM gene. Its diagnosis is based on suspicion of a compatible clinical symptomatology, increased levels of alpha-fetoprotein, cerebellar atrophy, and genetic testing. There is no curative treatment for AT and its management is based on supportive and preventive measures of eventual complications and genetic counseling. This review updates the epidemiology, clinical manifestations, diagnosis, and treatment of AT, including a search for cases published in Peru.
Key words
Full text:
1
Collection:
01-internacional
Database:
LILACS
/
LIPECS
Main subject:
Peru
/
Ataxia
/
Signs and Symptoms
/
Ataxia Telangiectasia
/
Epidemiology
/
Ataxia Telangiectasia Mutated Proteins
Limits:
Humans
Country/Region as subject:
America do sul
/
Peru
Language:
Es
Journal:
Rev. neuro-psiquiatr. (Impr.)
Journal subject:
NEUROLOGIA
/
PSIQUIATRIA
Year:
2023
Document type:
Article
Affiliation country:
Peru
Country of publication:
Peru