<?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>0872-671X</journal-id>
<journal-title><![CDATA[Medicina Interna]]></journal-title>
<abbrev-journal-title><![CDATA[Medicina Interna]]></abbrev-journal-title>
<issn>0872-671X</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Medicina Interna]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-671X2021000100028</article-id>
<article-id pub-id-type="doi">10.24950/cc/268/20/1/2021</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Fabry Disease: New Diagnosis of a Family]]></article-title>
<article-title xml:lang="pt"><![CDATA[Doença de Fabry: Diagnóstico Inaugural de uma Família]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sousa]]></surname>
<given-names><![CDATA[Débora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gonçalves]]></surname>
<given-names><![CDATA[Bebiana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Horta]]></surname>
<given-names><![CDATA[Alexandra Bayão]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital da Luz-Lisboa Serviço de Medicina Interna ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2021</year>
</pub-date>
<volume>28</volume>
<numero>1</numero>
<fpage>28</fpage>
<lpage>31</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-671X2021000100028&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-671X2021000100028&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-671X2021000100028&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Fabry&#8217;s disease is a rare inherited disease, linked to the X chromosome, that results from a deficiency of alfa&#8208;galactosidase A activity. We report the case of a 59-year-old -man admitted in the emergency department after a fall herald by chest pain. Cardiac ultrasound showed exuberant left ventricle hypertrophy and complementary study with cardiac magnetic resonance showed intramyocardial fibrosis. The rest of the study also showed a proteinuria of 2.15 g/24 hours. Past medical history highlighted an ischemic stroke at 50 years-old and vasospastic angina at 52 years-old. He also reported many years of symptoms compatible with acroparesthesias and had angiokeratomas since childhood. Suspecting Fabry&#8217;s disease, we measured the blood levels of alpha-galactosidase A, which showed a severe reduction in enzyme activity, confirming the diagnosis. Genetic study showed the p.G35E mutation in the alpha-galactosidase gene in our patient, his three daughters and one grandchild.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  A doença de Fabry é uma doença hereditária rara, ligada ao cromossoma X, cujo defeito metabólico decorre da diminuição da atividade da alfa-galactosidase A. Descreve-se o caso de um homem de 59 anos, internado através do serviço de urgência onde recorreu por queda precedida de dor torácica. O ecocardiograma mostrou exuberante hipertrofia do ventrículo esquerdo, confirmada por ressonância magnética cardíaca que mostrou fibrose intramiocárdica. Do restante estudo salientava-se proteinúria de 2,15 g/24 horas. O doente tinha história prévia de acidente vascular cerebral isquémico aos 50 anos e angina vasospástica aos 52 anos, destacando-se ainda sintomas compatíveis com acroparestesias com anos de evolução e angioqueratomas desde a infância. Colocada a hipótese de doença de Fabry, pelo que se doseou a alfa-galactosidase A, que mostrou redução grave da atividade enzimática, confirmando o diagnóstico. O estudo genético identificou a mutação p.G35E no gene galactosidase-alfa no doente, nas suas três filhas e em uma neta.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Alfa-Galactosidase]]></kwd>
<kwd lng="pt"><![CDATA[Doença de Fabry]]></kwd>
<kwd lng="pt"><![CDATA[Doenças raras]]></kwd>
<kwd lng="en"><![CDATA[alpha-Galactosidase]]></kwd>
<kwd lng="en"><![CDATA[Fabry Disease]]></kwd>
<kwd lng="en"><![CDATA[Rare diseases]]></kwd>
</kwd-group>
</article-meta>
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