<?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>0120-2448</journal-id>
<journal-title><![CDATA[Acta Medica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Med Colomb]]></abbrev-journal-title>
<issn>0120-2448</issn>
<publisher>
<publisher-name><![CDATA[Asociacion Colombiana de Medicina Interna]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-24482021000400046</article-id>
<article-id pub-id-type="doi">10.36104/amc.2021.1950</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Hereditary coproporhyria]]></article-title>
<article-title xml:lang="es"><![CDATA[Coproporfiria hereditaria]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[HURTADO-MAYOR]]></surname>
<given-names><![CDATA[JORGE ANDRÉS]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[CASTRO-HENAO]]></surname>
<given-names><![CDATA[JULIANA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[SALAZAR-CUEVAS]]></surname>
<given-names><![CDATA[MARÍA CAMILA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[BARRIOS-ARROYAVE]]></surname>
<given-names><![CDATA[FREDDY ANDRÉS]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[DUQUE-ARIAS]]></surname>
<given-names><![CDATA[MONICA]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Institución Universitaria Autónoma de las Américas  ]]></institution>
<addr-line><![CDATA[Pereira ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Institución Universitaria Autónoma de las Américas Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Pereira ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Clínica los Rosales  ]]></institution>
<addr-line><![CDATA[Pereira ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>46</volume>
<numero>4</numero>
<fpage>46</fpage>
<lpage>48</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-24482021000400046&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-24482021000400046&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-24482021000400046&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Hereditary coproporphyria (HCP) is a congenital, autosomal dominant disorder which occurs in approximately two to five people per million inhabitants, worldwide. It is a diagnostic challenge in patients with acute abdominal pain. We present the case of a 17-year-old adolescent who debuted with atypical abdominal pain with no clear etiology. Elevated urinary porphobilinogen was found, which was treated with hematin. A genetic study concluded that the adolescent was a heterozygous carrier of the c.717T&gt;A; p.Cys239 pathogenic nonsense mutation in the CPOX gene, leading to a diagnosis of hereditary copropophyria. The available national literature has presented cases diagnosed with acute intermittent porphyria in patients with abdominal pain of unknown origin, without covering the existing classifications of hepatic porphyrias and without detailing the genetic diagnosis; thus, this case is a contribution to the national case studies. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La coproporfiria hereditaria (CPH) es un trastorno congênito, autosómico dominante, que se presenta en aproximadamente dos a cinco personas por cada millón de habitantes a nivel mundial. Constituye un reto diagnóstico en aquellos pacientes que cursan con dolor abdominal agudo. Se presenta el caso de una adolescente de 17 años que debutó con un cuadro atípico de dolor abdominal sin etiología clara. Se le documentó porfobilinógeno elevado en orina y fue tratada con hematina. El estudio genético realizado concluyó condición de portadora hererocigota de la variante nonsense patogénica c.717T&gt;A; p.Cys239 en el gen CPOX, permitiendo diagnosticar una coproporfiria hereditaria. La literatura nacional disponible ha presentado casos con diagnóstico de porfiria aguda intermitente en pacientes con dolor abdominal de origen no específico, sin abordar las clasificaciones existentes de las porfirias hepáticas y sin detallar el diagnóstico genético, por lo cual el presente caso es un aporte a la casuística nacional. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[hepatic porphyrias]]></kwd>
<kwd lng="en"><![CDATA[differential diagnosis]]></kwd>
<kwd lng="en"><![CDATA[abdominal pain]]></kwd>
<kwd lng="en"><![CDATA[genetic tests]]></kwd>
<kwd lng="en"><![CDATA[hereditary coproporphyria]]></kwd>
<kwd lng="es"><![CDATA[porfirias hepáticas]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico diferencial]]></kwd>
<kwd lng="es"><![CDATA[dolor abdominal]]></kwd>
<kwd lng="es"><![CDATA[pruebas genéticas]]></kwd>
<kwd lng="es"><![CDATA[coproporfiria hereditaria]]></kwd>
</kwd-group>
</article-meta>
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