<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1139-7632</journal-id>
<journal-title><![CDATA[Pediatría Atención Primaria]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pediatr Aten Primaria]]></abbrev-journal-title>
<issn>1139-7632</issn>
<publisher>
<publisher-name><![CDATA[Asociación Española de Pediatría de Atención Primaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1139-76322016000300013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Bruton de diagnóstico precoz: importancia de una adecuada historia clínica y los antecedentes familiares]]></article-title>
<article-title xml:lang="en"><![CDATA[Early diagnosis of Bruton´s disease: the importance of an adequate medical and family history]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Urriza Ripa]]></surname>
<given-names><![CDATA[Ilargi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Villarreal Calvo]]></surname>
<given-names><![CDATA[María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Álvarez García]]></surname>
<given-names><![CDATA[Jorge]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Durán Urdániz]]></surname>
<given-names><![CDATA[Gabriel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos Arroyo]]></surname>
<given-names><![CDATA[María Antonia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Herranz Aguirre]]></surname>
<given-names><![CDATA[Mercedes]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Complejo Hospitalario de Navarra Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Pamplona Navarra]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Complejo Hospitalario de Navarra Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Pamplona Navarra]]></addr-line>
<country>España</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital García Orcoyen Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Estella Navarra]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Complejo Hospitalario de Navarra Servicio de Genética ]]></institution>
<addr-line><![CDATA[Pamplona Navarra]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<volume>18</volume>
<numero>71</numero>
<fpage>e111</fpage>
<lpage>e114</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1139-76322016000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1139-76322016000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1139-76322016000300013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La enfermedad de Bruton o agammaglobulinemia ligada al cromosoma X es una inmunodeficiencia primaria que cursa con la disminución drástica o la inexistencia de inmunoglobulinas en la sangre periférica. Esto va a originar una predisposición a desarrollar infecciones bacterianas recurrentes en el periodo de lactancia. Lo más importante y complejo a su vez es establecer el diagnóstico de sospecha, ya que se trata de una enfermedad infrecuente que cursa con manifestaciones muy comunes, como son las infecciones. Una vez sospechada la enfermedad, es importante derivar al paciente a un centro especializado para realizar los análisis pertinentes; en primer lugar, un análisis de sangre con recuento de inmunoglobulinas, y si están descendidas hay que solicitar la determinación de subpoblaciones linfocitarias mediante citometría de flujo. El diagnóstico de certeza se establece mediante análisis genéticos. El tratamiento consiste en la administración temprana de gammaglobulina intravenosa. Presentamos el caso de un paciente en el que una buena historia clínica permitió un diagnóstico precoz de enfermedad de Bruton, previo a la aparición de potenciales complicaciones.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract 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.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Agammaglobulinemia]]></kwd>
<kwd lng="es"><![CDATA[Bruton]]></kwd>
<kwd lng="es"><![CDATA[Inmunodeficiencia]]></kwd>
<kwd lng="en"><![CDATA[Agammaglobulinemia]]></kwd>
<kwd lng="en"><![CDATA[Bruton]]></kwd>
<kwd lng="en"><![CDATA[Immunodeficiency]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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