<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492019000500276</article-id>
<article-id pub-id-type="doi">10.31134/ap.90.5.4</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hiperinsulinismo congénito por mutación del gen ABCC8]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital hyperinsulinism due to the ABCC8 gene mutation]]></article-title>
<article-title xml:lang="pt"><![CDATA[Hiperinsulinismo congênito causado por mutação do gen ABCC8]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tambasco]]></surname>
<given-names><![CDATA[Ricardo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gesuele]]></surname>
<given-names><![CDATA[Juan Pablo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Puglia]]></surname>
<given-names><![CDATA[Paul]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Manzanares]]></surname>
<given-names><![CDATA[Mario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silvera]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moraes]]></surname>
<given-names><![CDATA[Mario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez]]></surname>
<given-names><![CDATA[María José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Berazategui]]></surname>
<given-names><![CDATA[Ruber]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Borbonet]]></surname>
<given-names><![CDATA[Daniel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR Facultad de Medicina ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Cirugía Pediátrica.]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,UDELAR Facultad de Medicina Servicio de Recién Nacidos]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Neonatología. CHPR]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Neonatología. CHPR.]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,UDELAR Facultad de Medicina CHPR]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Cirugía Pediátrica]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Neonatología]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<volume>90</volume>
<numero>5</numero>
<fpage>276</fpage>
<lpage>282</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492019000500276&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492019000500276&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492019000500276&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El hiperinsulinismo congénito es la causa más común de hipoglucemia persistente en el recién nacido y la infancia, con un alto riesgo de daño neurológico irreversible. En los últimos años, gracias a los avances en el conocimiento de la genética molecular, se ha avanzado y profundizado en sus bases genéticas; sin embargo, el diagnóstico se sigue realizando en muchas ocasiones demasiado tarde, dada la heterogeneidad que presenta esta enfermedad. Se detalla a continuación el caso de una paciente con hipoglicemias de difícil control desde el nacimiento, secundaria a hiperinsulinismo congénito y en cuyo estudio genético se evidenció mutación del gen ABCC8.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in newborns and children at a high risk of irreversible neurological damage. In spite of the recent progress made by the molecular genetics&#8217; genetic base, diagnosis is still often late, given the heterogeneity of this disease. We hereby report the case of a patient ranging from secondary and difficult to control hypoglycemia to congenital hyperinsulinemia. Her genetic test showed ABCC8 gene mutation.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: O hiperinsulinismo congênito (HC) é a causa mais comum de hipoglicemia persistente em recém-nascidos e crianças com alto risco de dano neurológico irreversível. Apesar dos recentes progressos realizados pela base genética da genética molecular, o diagnóstico ainda é frequentemente realizado tarde demais, dada a heterogeneidade dessa doença. Relatamos o caso duma paciente que varia de hipoglicemia secundária e de difícil controle a hiperinsulinemia congênita. Seu teste genético mostrou mutação no gene ABCC8.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hiperinsulinismo congénito]]></kwd>
<kwd lng="en"><![CDATA[Congenital hyperinsulinism]]></kwd>
<kwd lng="pt"><![CDATA[Hiperinsulinismo congênito]]></kwd>
</kwd-group>
</article-meta>
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