<?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>S2500-50062019000200172</article-id>
<article-id pub-id-type="doi">10.22265/acnef.6.2.334</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome nefrótico congénito. Reporte de caso y revisión del enfoque diagnóstico]]></article-title>
<article-title xml:lang="en"><![CDATA[Congenital nephrotic syndrome. Case report and review of its diagnostic work up]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mora-Bautista]]></surname>
<given-names><![CDATA[Víctor Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez-Pinto]]></surname>
<given-names><![CDATA[Tatiana Alexandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras-García]]></surname>
<given-names><![CDATA[Gustavo Adolfo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Clínica Materno Infantil San Luis Universidad Industrial de Santander ]]></institution>
<addr-line><![CDATA[Bucaramanga ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario de Santander Universidad Industrial de Santander Departamento de pediatría]]></institution>
<addr-line><![CDATA[Bucaramanga ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Industrial de Santander Facultad de Salud ]]></institution>
<addr-line><![CDATA[Bucaramanga Santander]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>6</volume>
<numero>2</numero>
<fpage>172</fpage>
<lpage>178</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2500-50062019000200172&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2500-50062019000200172&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2500-50062019000200172&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El síndrome nefrótico se define como la unión de proteinuria masiva, hipoalbuminemia e hiperlipidemia, que pueden asociarse a edemas e hipercoagulabilidad. Se origina de una anormalidad de la barrera de filtración glomerular con una fuga masiva de proteína y los efectos secundarios consecuentes. En sus formas primarias, ocurre con una incidencia de 1-3 por cada 100.000 niños menores de 16 años. La forma congénita es una variante poco frecuente del síndrome nefrótico, la cual se presenta en el nacimiento o dentro de los tres primeros meses de vida, y suele ser resistente a la corticoterapia. Se debe evaluar primero la existencia de infecciones congénitas y luego buscar las enfermedades monogénicas más comunes, finalmente se puede recurrir a la secuenciación de nueva generación para buscar mutaciones en los demás genes candidatos. Se presenta el caso de una niña con síndrome nefrótico congénito de difícil control, enfatizando en el proceso diagnóstico y el manejo de soporte. Se resalta la importancia de la asesoría genética a la familia en todos los casos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract A nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminemia and hyperlipidemia, which may be associated with edema and hypercoagulability. It originates from an abnormality of the glomerular filtration barrier with a massive protein leak and the consequent side effects. In its primary forms, it occurs with an incidence of 1 - 3 per 100,000 children under 16 years of age. The congenital form is a rare variant of the nephrotic syndrome, which occurs at birth or within the first three months of life and is usually resistant to corticosteroid therapy. Congenital infections and most common related monogenic diseases should be tested. Finally, new generation sequencing must be used to search for mutations in other candidate genes. We present the case of a girl with congenital nephrotic syndrome difficult to control, emphasizing the diagnostic process and support management. The importance of genetic counseling to the family in all cases is highlighted.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome nefrótico congénito]]></kwd>
<kwd lng="es"><![CDATA[corticoterapia]]></kwd>
<kwd lng="es"><![CDATA[infecciones congénitas]]></kwd>
<kwd lng="es"><![CDATA[enfermedades monogénicas]]></kwd>
<kwd lng="es"><![CDATA[asesoría genética]]></kwd>
<kwd lng="en"><![CDATA[congenital nephrotic syndrome]]></kwd>
<kwd lng="en"><![CDATA[corticosteroid therapy]]></kwd>
<kwd lng="en"><![CDATA[congenital infections]]></kwd>
<kwd lng="en"><![CDATA[monogenic diseases]]></kwd>
<kwd lng="en"><![CDATA[genetic counseling]]></kwd>
</kwd-group>
</article-meta>
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