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Colegio de Medicos y Cirujanos República de Costa Rica

2011, Number 597

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Rev Med Cos Cen 2011; 68 (597)

Ataxia telangiectasia: Breve descripción clínica

Torres FJ

Language: Spanish
References: 34
Page: 163-168
PDF size: 367.12 Kb.


ABSTRACT

Ataxia telangiectasia is an autosomal recessive genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia and immunodeficiency. The ataxia telangiectasia gene (ATM) is localized to 11q22.3 and belongs to a conserved family of genes that control DNA repair. The onset of truncal ataxia may be seen from infancy and is progressive. The onset of immunodeficiency can cause chronic or recurring pulmonary infections that produce bronchiectasis. Persistent high levels of oncofetal serum proteins facilitate the diagnosis. Ataxia telangiectasia patients have a high incidence of malignant neoplasias of the reticuloendothelial system.


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