<?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>2500-5006</journal-id>
<journal-title><![CDATA[Revista Colombiana de Nefrología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. colom. nefrol.]]></abbrev-journal-title>
<issn>2500-5006</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Nefrología e Hipertensión Arterial]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2500-50062020000100097</article-id>
<article-id pub-id-type="doi">10.22265/acnef.7.1.355</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Acidosis tubular renal distal. Serie de casos y revisión narrativa]]></article-title>
<article-title xml:lang="en"><![CDATA[Distal renal tubular acidosis: case series report and literature review]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Frías Ordoñez]]></surname>
<given-names><![CDATA[Juan Sebastián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Urrego Díaz]]></surname>
<given-names><![CDATA[José Augusto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lozano Triana]]></surname>
<given-names><![CDATA[Carlos Javier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Landinez Millán]]></surname>
<given-names><![CDATA[Guillermo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Pediatría Facultad de Medicina]]></institution>
<addr-line><![CDATA[Bogotá D.C ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Fundación Hospital Pediátrico de la Misericordia Servicio de Medicina Interna ]]></institution>
<addr-line><![CDATA[Bogotá D.C ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Pediatría Facultad de Medicina]]></institution>
<addr-line><![CDATA[Bogotá D.C ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>7</volume>
<numero>1</numero>
<fpage>97</fpage>
<lpage>112</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2500-50062020000100097&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2500-50062020000100097&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2500-50062020000100097&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[acidosis tubular renal]]></kwd>
<kwd lng="es"><![CDATA[nefrocalcinosis]]></kwd>
<kwd lng="es"><![CDATA[genética]]></kwd>
<kwd lng="es"><![CDATA[túbulos renales distales]]></kwd>
<kwd lng="es"><![CDATA[enfermedades raras]]></kwd>
<kwd lng="en"><![CDATA[Acidosis]]></kwd>
<kwd lng="en"><![CDATA[renal tubular]]></kwd>
<kwd lng="en"><![CDATA[nephrocalcinosis]]></kwd>
<kwd lng="en"><![CDATA[genetics]]></kwd>
<kwd lng="en"><![CDATA[kidney tubules]]></kwd>
<kwd lng="en"><![CDATA[distal]]></kwd>
<kwd lng="en"><![CDATA[rare diseases]]></kwd>
</kwd-group>
</article-meta>
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