<?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>2393-6797</journal-id>
<journal-title><![CDATA[Revista Uruguaya de Medicina Interna ]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Urug. Med. Int.]]></abbrev-journal-title>
<issn>2393-6797</issn>
<publisher>
<publisher-name><![CDATA[Sociedad de Medicina Interna del Uruguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2393-67972019000100040</article-id>
<article-id pub-id-type="doi">10.26445/04.01.2</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hemocromatosis hereditaria: debut como cirrosis compensada de diagnóstico incidental. Reporte de un caso y revisión del tema.]]></article-title>
<article-title xml:lang="en"><![CDATA[Hereditary hemochromatosis: debut as compensated cirrhosis of incidental diagnosis. Report of a case and review of the topic.]]></article-title>
<article-title xml:lang="pt"><![CDATA[Hemocromatose hereditária: estreia como cirrose compensada de diagnóstico incidental. Relatório de um caso e revisão do tópico.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Brin]]></surname>
<given-names><![CDATA[Mariana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Spiess]]></surname>
<given-names><![CDATA[Julio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valverde]]></surname>
<given-names><![CDATA[Marcelo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Llambí]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la República Facultad de Medicina. Hospital de Clínicas &#8220;Dr. Manuel Quintela]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<volume>4</volume>
<numero>1</numero>
<fpage>40</fpage>
<lpage>48</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2393-67972019000100040&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2393-67972019000100040&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2393-67972019000100040&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: La Hemocromatosis Hereditaria (HH) se define por la acumulación tisular de hierro, predominantemente en hígado, páncreas y miocardio, siendo una de las formas de sobrecarga férrica de causa congénita. El diagnóstico de HH en la edad adulta es poco frecuente en nuestro medio, y debe tenerse en cuenta ante hepatopatías crónicas de etiología incierta, más aún cuando se acompañan de elementos orientadores de afectación de otros tejidos. En este artículo se presenta el caso de un paciente alcoholista que debuta clínicamente con una hemorragia digestiva, contexto en el cual se establece el diagnóstico de cirrosis. Dados los antecedentes familiares de hepatopatía crónica de etiología incierta, el reciente diagnóstico de diabetes, y ante el hallazgo de un perfil de sobrecarga férrica, a pesar del consumo problemático de alcohol, se solicitaron los estudios destinados a confirmar el planteo de HH. El estudio genético en busca de homocigosis del alelo C282Y para el gen HFE resultó positivo. Se iniciaron flebotomías seriadas con buena evolución posterior. Se presenta el caso clínico y se realiza una revisión de la literatura.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: Hereditary Hemochromatosis (HH) is defined by tissue accumulation of iron, predominantly in theliver, pancreas and myocardium, being one of the forms of iron overload of congenital cause. The diagnosis of HH in adulthood is rare in our environment and must be taken into account in the presence of chronic liver disease of uncertain etiology. In this article we present a clinical case of an alcoholic patient who debuted clinically with a digestive bleeding, context in which the diagnosis of cirrhosis was established. Given the family history of chronic liver disease of uncertain etiology, the recent diagnosis of diabetes, and the finding of a profile of iron overload, despite problematic alcohol consumption, studies were requested to confirm the HH approach. The genetic study in search of homozygosis of the C282Y allele for the HFE gene was positive. Serial phlebotomies were started with favourable evolution at follow-up. The clinical case is presented, and a review of the literature is made.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: Hemocromatose hereditária (HH) por acumulação de ferro no tecido é definido predominantemente no fígado, no pâncreas e enfarte, uma das formas de sobrecarga de ferro causa congénita. Diagnóstico HH na idade adulta é raro em nossa área, e deve ser considerada a doença hepática crônica de etiologia desconhecida, mesmo quando acompanhadas por elementos de guia de envolvimento de outros tecidos. Este artigo apresenta o caso de um paciente com alcoolismo que estreou clinicamente com uma hemorragia digestiva, um contexto no qual o diagnóstico de cirrose é estabelecido. Dada a história familiar de doença hepática crônica de etiologia desconhecida, o diagnóstico recente de diabetes e antes da conclusão de um perfil de sobrecarga de ferro, apesar do uso problemático de álcool, estudos para confirmar a proposição de HH foram solicitados. O estudo genético em busca de homozigose do alelo C282Y para o gene HFE foi positivo. Flebotomias seriadas com boa evolução posterior foram iniciadas. O caso clínico é apresentado e uma revisão da literatura é feita.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[hemocromatosis hereditaria]]></kwd>
<kwd lng="es"><![CDATA[sobrecarga férrica]]></kwd>
<kwd lng="es"><![CDATA[C282Y]]></kwd>
<kwd lng="en"><![CDATA[hereditary hemochromatosis]]></kwd>
<kwd lng="en"><![CDATA[iron overload]]></kwd>
<kwd lng="en"><![CDATA[C282Y.]]></kwd>
<kwd lng="pt"><![CDATA[hemocromatose hereditaria]]></kwd>
<kwd lng="pt"><![CDATA[sobrecarga de ferro]]></kwd>
<kwd lng="pt"><![CDATA[C282Y]]></kwd>
</kwd-group>
</article-meta>
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