<?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>1688-0420</journal-id>
<journal-title><![CDATA[Revista Uruguaya de Cardiología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev.Urug.Cardiol.]]></abbrev-journal-title>
<issn>1688-0420</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Cardiología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-04202023000101701</article-id>
<article-id pub-id-type="doi">10.29277/cardio.38.1.9</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Reporte de caso. Enfermedad de Fabry en un adulto con enfermedad renal crónica y síntomas sistémicos característicos]]></article-title>
<article-title xml:lang="en"><![CDATA[A case report. Fabry disease in an adult with chronic kidney disease and characteristic systemic symptoms]]></article-title>
<article-title xml:lang="pt"><![CDATA[Relato de um caso. Doença de Fabry em um adulto com doença renal crônica e sintomas sistémicos característicos]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valentini]]></surname>
<given-names><![CDATA[Marcela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maianti]]></surname>
<given-names><![CDATA[Diego]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Florio]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Sanatorio Americano Centro Cardiológico ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>38</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-04202023000101701&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-04202023000101701&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-04202023000101701&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Se presenta el caso de un paciente de sexo masculino, de 62 años, con antecedentes familiares de cardiopatía y enfermedad renal, y antecedentes personales de enfermedad renal crónica severa, por la que recibió trasplante renal. Es enviado a consulta cardiológica por dolores torácicos atípicos y episodios de hipotensión sintomática, se constata en el ecocardiograma: hipertrofia ventricular izquierda concéntrica y deformación miocárdica longitudinal del ventrículo izquierdo patológica. La resonancia magnética cardíaca encuentra un patrón de realce tardío sugestivo de enfermedad de Fabry, diagnóstico que se confirma con dosificación enzimática y estudio genético. Recibe tratamiento específico con una buena respuesta inicial. Esta es una enfermedad sistémica metabólica congénita en la que el diagnóstico y el tratamiento específico se realiza en la edad adulta.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: It is presented a 62-year-old male patient with a family history of heart and kidney disease, and a personal history of chronic kidney disease, for which he received a kidney transplant. He was sent to the cardiology department due to atypical chest pain and episodes of symptomatic hypotension. The echocardiogram revealed: concentric left ventricular hypertrophy and pathological longitudinal myocardial deformation of the left ventricle. Cardiac magnetic resonance finds a pattern of late enhancement suggestive of Fabry disease, a diagnosis that is confirmed with enzyme dosage and genetic study. He receives specific treatment with a good initial response. This is a congenital metabolic systemic disease in which the diagnosis and specific treatment is carried out in adulthood.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: Se apresenta o caso de um paciente do sexo masculino, 62 anos, com histórico familiar de cardiopatia e doença renal e histórico pessoal de doença renal crônica grave, para o qual recebeu transplante de rim. Foi encaminhado ao serviço de cardiologia por dor torácica atípica e episódios de hipotensão sintomática. O ecocardiograma revelou: hipertrofia ventricular esquerda concêntrica e deformação miocárdica longitudinal patológica do ventrículo esquerdo. A ressonância magnética cardíaca encontra um padrão de realce tardio sugestivo de doença de Fabry, diagnóstico confirmado com dosagem enzimática e estudo genético. Recebe tratamento específico com boa resposta inicial. Tratase de uma doença sistêmica metabólica congênita em que o diagnóstico e o tratamento específico são realizados na idade adulta.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedad de fabry]]></kwd>
<kwd lng="es"><![CDATA[enzima alfagalactosidasa a]]></kwd>
<kwd lng="es"><![CDATA[enfermedad lisosomal]]></kwd>
<kwd lng="en"><![CDATA[fabry disease]]></kwd>
<kwd lng="en"><![CDATA[alphagalactosidase a enzyme]]></kwd>
<kwd lng="en"><![CDATA[lysosomal disease]]></kwd>
<kwd lng="pt"><![CDATA[doença de fabry]]></kwd>
<kwd lng="pt"><![CDATA[enzima alfagalactosidase a]]></kwd>
<kwd lng="pt"><![CDATA[doença lisossomal]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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