Vol. 18 - Num. 71
aMIR-Pediatría. Complejo Hospitalario de Navarra. Pamplona. España.
bMIR-Pediatría, Servicio de Pediatría, Complejo Hospitalario de Navarra. Pamplona. España.
cServicio de Pediatría, Complejo Hospitalario de Navarra. Pamplona. España.
dServicio de Pediatría, Hospital García Orcoyen. Estella. Navarra. España.
eServicio de Genética, Complejo Hospitalario de Navarra. Pamplona. Navarra. España.
fServicio de Pediatría. Complejo Hospitalario de Navarra. Pamplona. Navarra. España.
Correspondence: I Urriza. E-mail: email@example.com
Reference of this article: Urriza Ripa I, Villarreal Calvo M, Álvarez García J, Durán Urdániz G, Ramos Arroyo MA, Herranz Aguirre M. Early diagnosis of Bruton´s disease: the importance of an adequate medical and family history. Rev Pediatr Aten Primaria. 2016;18:e111-e114.
Published in Internet: 09-06-2016 - Visits: 7119
Bruton’s disease or X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by severe hypogammaglobulinemia. This causes increased susceptibility to bacterial recurrent infections at young age. It is very important, but difficult, to establish a diagnosis based on suspicion because of the common clinical symptoms of this rare disease. Once XLA is suspected, it is very important to refer the patient to a specialized hospital for specific analysis to confirm the disease. First, 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 analysis 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 patient with Bruton´s disease before any potential complications appeared.
Keywords● Agammaglobulinemia ● Bruton disease ● X-linked genetic disease
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