<?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>0211-6995</journal-id>
<journal-title><![CDATA[Nefrología (Madrid)]]></journal-title>
<abbrev-journal-title><![CDATA[Nefrología (Madr.)]]></abbrev-journal-title>
<issn>0211-6995</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Nefrología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0211-69952016000300015</article-id>
<article-id pub-id-type="doi">10.1016/j.nefro.2015.12.003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Múltiples quistes parapiélicos en la enfermedad de Fabry]]></article-title>
<article-title xml:lang="en"><![CDATA[Multiple parapelvic cysts in Fabry disease]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Azancot]]></surname>
<given-names><![CDATA[María A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vila]]></surname>
<given-names><![CDATA[Josefa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domínguez]]></surname>
<given-names><![CDATA[Carmen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Serres]]></surname>
<given-names><![CDATA[Xavier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinel]]></surname>
<given-names><![CDATA[Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitari Vall d&#8217;Hebron Servicio de Nefrología ]]></institution>
<addr-line><![CDATA[Barcelona ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitari Vall d&#8217;Hebron CIBBIM-Nanomedicina ]]></institution>
<addr-line><![CDATA[Barcelona ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Universitari Vall d&#8217;Hebron Servicio de Radiología ]]></institution>
<addr-line><![CDATA[Barcelona ]]></addr-line>
<country>Spain</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2016</year>
</pub-date>
<volume>36</volume>
<numero>3</numero>
<fpage>310</fpage>
<lpage>312</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0211-69952016000300015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0211-69952016000300015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0211-69952016000300015&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La enfermedad de Fabry es una enfermedad de depósito lisosomal de carácter hereditario, ligada al cromosoma X, causado por el déficit de la enzima alfa-galactosidasa A (alfa-GLA A), lo que conduce a la acumulación de glicoesfingolípidos, principalmente globotriaosilceramida, en los tejidos. Es una enfermedad poco prevalente, y con muy bajo índice de sospecha, por lo que, generalmente, existe un retraso en el diagnóstico y en el tratamiento. Presentamos un caso de un paciente varón afecto de la enfermedad de Fabry, que presentaba múltiples quistes parapiélicos e insuficiencia renal, sin presentar angioqueratomas. El estudio genético mostró una mutación en el gen de alfa-GLA A que no ha sido descrita previamente en el registro de mutaciones, y de novo, ya que no se encontró en otros familiares, además que no fue trasmitida a la descendencia. La presencia de múltiples quistes parapiélicos y su peculiar aspecto fue lo que hizo sospechar el diagnóstico de la enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad de Fabry]]></kwd>
<kwd lng="es"><![CDATA[Quistes parapiélicos]]></kwd>
<kwd lng="es"><![CDATA[Mutación de novo]]></kwd>
<kwd lng="en"><![CDATA[Fabry diseasem]]></kwd>
<kwd lng="en"><![CDATA[Parapelvic cysts]]></kwd>
<kwd lng="en"><![CDATA[De novo mutation]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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