<?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>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132025000400005</article-id>
<article-id pub-id-type="doi">10.24875/gmm.m25001010</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Lo raro en lo común: enfermedad de Fabry no sospechada en una familia con enfermedades comunes]]></article-title>
<article-title xml:lang="en"><![CDATA[The rare in the common: unsuspected Fabry disease in a large family with common diseases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras-Capetillo]]></surname>
<given-names><![CDATA[Silvina N.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pinto-Escalante]]></surname>
<given-names><![CDATA[Doris]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rangel-Méndez]]></surname>
<given-names><![CDATA[Jorge A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pech-George]]></surname>
<given-names><![CDATA[Ricardo E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bacelis-Campo]]></surname>
<given-names><![CDATA[Edwin]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Solís-Baeza]]></surname>
<given-names><![CDATA[Fabiola]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gutiérrez-Flores]]></surname>
<given-names><![CDATA[Mirian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aguiar-Castellanos]]></surname>
<given-names><![CDATA[Mathia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arjona-Villicaña]]></surname>
<given-names><![CDATA[Ruy D.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gaviño-Vergara]]></surname>
<given-names><![CDATA[Alejandro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cámara Castillo]]></surname>
<given-names><![CDATA[Héctor G.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Graniel-Sabido]]></surname>
<given-names><![CDATA[Manlio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Herrera]]></surname>
<given-names><![CDATA[Lizbeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Secretaría de Salud de Yucatan Servicio de Genética ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Autónoma de Yucatán Centro de Investigaciones Regionales Dr. Hideyo Noguchi Laboratorio de Salud Reproductiva y Genética]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Regional de Alta Especialidad de la Península de Yucatán Servicio de Psiquiatría ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Secretaría de Salud de Yucatan Servicio de Medicina Interna ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Secretaría de Salud de Yucatan Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Secretaría de Salud de Yucatan Servicio de Endocrinología ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Secretaría de Salud de Yucatán Servicio de Reumatología ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Hospital Regional de Alta Especialidad de la Península de Yucatán Servicio de Endocrinología ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Centro de Rehabilitación CRIT Quintana Roo Servicio de Genética ]]></institution>
<addr-line><![CDATA[Cancun ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="A10">
<institution><![CDATA[,Clínica de Merida Servicio de Oftalmología ]]></institution>
<addr-line><![CDATA[Merida ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="A11">
<institution><![CDATA[,Universidad Autónoma de Yucatán Facultad de Química Laboratorio de Química Clínica]]></institution>
<addr-line><![CDATA[Mérida, ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2025</year>
</pub-date>
<volume>161</volume>
<numero>4</numero>
<fpage>397</fpage>
<lpage>403</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132025000400005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132025000400005&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132025000400005&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Antecedentes: La enfermedad de Fabry es una enfermedad de almacenamiento lisosomal ligado al cromosoma X, causada por la deficiencia de la enzima alfa-galactosidasa A. Los individuos afectados cursan con hipertensión, acroparestecias y daño cardiovascular.  Objetivo: En este artículo se presenta una familia de cinco generaciones afectadas por la Enfermedad de Fabry con diagnóstico tardío debido a que la patología fue enmascarada por diagnósticos comunes como diabetes mellitus, obesidad, eszquisofrenia e hipertensión esencial.  Material y métodos: La información clínica se obtuvo de 71 miembros de la familia y se realizó prueba molecular en 40 de ellos.  Resultados: La secuenciación Sanger reportó la variante NM_000169.2: c.166T &gt; C p.(Cys56Arg) en el gen GLA en 21 pacientes. En algunos pacientes positivos, se encontró co-ocurrencia de diabetes mellitus tipo 2, artritis reumatoide y enfermedad de Graves. Por el momento, no se conoce la relación que exista entre las enfermedades inmunológicas y la enfermedad de Fabry.  Conclusiones: La importancia de este conocimiento radica en que sospechar una enfermedad rara solamente cuando otras enfermedades comunes han sido descartadas retrasa el diagnóstico y tratamiento de las personas afectadas. Se requiere médicos bien entrenados para identificar en forma precisa los diferentes síntomas asociados a la enfermedad de Fabry.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase A (encoded by the GLA gene). Affected individuals present hypertension (HT), acroparesthesias, and cardiovascular damage.  Objective: Here we describe the clinical presentation of a 5-generation family affected by FD with a late diagnosis because their pathology was masked by common diagnoses such as diabetes mellitus (DM), obesity, schizophrenia, and essential HT.  Materials and methods: Clinical information was obtained from 71 family members, and molecular testing was performed on 40 of them.  Results: In twenty-one patients, Sanger sequencing identified the GLA gene variant NM_000169.2: c.166T &gt; C p.(Cys56Arg). In positive patients, DM, rheumatoid arthritis, and Graves' disease were observed concurrently. Hence, a possible relationship between immunological diseases and FD cannot be ruled out.  Conclusion: Suspecting a rare disease only after ruling out common diseases can lead to diagnostic and treatment delays. Well-trained clinicians are required to accurately identify the myriad symptoms of FD.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hipertensión]]></kwd>
<kwd lng="es"><![CDATA[Diabetes mellitus]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Fabry]]></kwd>
<kwd lng="es"><![CDATA[Angioqueratomas]]></kwd>
<kwd lng="es"><![CDATA[Artritis reumatoide]]></kwd>
<kwd lng="es"><![CDATA[Crisis de dolor]]></kwd>
<kwd lng="en"><![CDATA[Hypertension]]></kwd>
<kwd lng="en"><![CDATA[Diabetes mellitus]]></kwd>
<kwd lng="en"><![CDATA[Fabry disease]]></kwd>
<kwd lng="en"><![CDATA[Angiokeratomas]]></kwd>
<kwd lng="en"><![CDATA[Rheumatoid arthritis]]></kwd>
<kwd lng="en"><![CDATA[Pain crises]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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<source><![CDATA[Mol Genet Metab]]></source>
<year>2018</year>
<volume>123</volume>
<page-range>416-27</page-range></nlm-citation>
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</article>
