Abstract

URRIZA RIPA, Ilargi et al. Early diagnosis of Bruton´s disease: the importance of an adequate medical and family history. Rev Pediatr Aten Primaria [online]. 2016, vol.18, n.71, pp.e111-e114. ISSN 1139-7632.

Bruton's disease or X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by severe hypogammaglobulinemia. This fact will originate increased susceptibility to bacterial recurrent infections at young age. It is very important and complicated to establish a suspicious diagnosis because of the common clinical symptoms of this uncommon disease. Once XLA is suspected, it is very important to refer the patient to a specialized hospital where the analysis needed for the diagnosis can be done. Firstly a blood analysis is done to see if antibody levels are low. In that case, a fluorocytometric analysis is needed to study the antibody classes. Genetic analisis shows mutation of BTK gene resulting in defective B cell differentiation and it must be done for diagnosis certainty. Treatment is based on intravenous immunoglobulin administration for life. We report a case in which a good clinical history was the key for an early diagnosis and treatment of a pacient with Bruton´s disease, before any potential complications appeared.

Keywords : Agammaglobulinemia; Bruton; Immunodeficiency.

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