<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462021000300239</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.20000123</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Disfunción del transportador del surfactante pulmonar ABCA3: reporte de un caso peruano]]></article-title>
<article-title xml:lang="en"><![CDATA[Surfactant ABCA3 transporter dysfunction: a case report from Peru]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nuñez-Paucar]]></surname>
<given-names><![CDATA[Héctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valera-Moreno]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zamudio-Aquise]]></surname>
<given-names><![CDATA[Mariela K.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lipa-Chancolla]]></surname>
<given-names><![CDATA[Roxana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pérez-Garfias]]></surname>
<given-names><![CDATA[Fabio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moncada-Arias]]></surname>
<given-names><![CDATA[Ana G.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Atamari-Anahui]]></surname>
<given-names><![CDATA[Noé]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Salud del Niño-Breña  ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Salud del Niño-San Borja  ]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional de San Antonio Abad del Cusco Facultad de Ciencias de la Salud Escuela Profesional de Medicina Humana]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad San Ignacio de Loyola Vicerrectorado de Investigación Unidad de Investigación para la Generación y Síntesis de Evidencias en Salud]]></institution>
<addr-line><![CDATA[Lima ]]></addr-line>
<country>Perú</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<volume>78</volume>
<numero>3</numero>
<fpage>239</fpage>
<lpage>244</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462021000300239&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462021000300239&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462021000300239&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Resumen  Introducción: Los trastornos genéticos que afectan la homeostasis del surfactante pulmonar son una causa importante del síndrome de dificultad respiratoria en el recién nacido a término y de enfermedad pulmonar intersticial difusa en niños. El transportador ABCA3 (ATP binding cassette A3) interviene en la producción normal del surfactante que recubre el interior de las paredes alveolares y funciona como agente tensioactivo.  Caso clínico: Recién nacido a término que presentó dificultad respiratoria a los 3 días de vida y requirió ventilación mecánica. Los estudios para determinar otras causas de enfermedad pulmonar fueron negativos. Se realizó una biopsia de pulmón para realizar estudios de microscopía óptica y microscopía electrónica. Esta última mostró pequeños cuerpos lamelares anómalos, además de condensaciones electrodensas periféricas, características de las mutaciones del transportador ABCA3. Se inició tratamiento con pulsos de metilprednisolona, hidroxicloroquina, azitromicina y corticoides inhalados a dosis altas, y la respuesta clínica y radiológica fue favorable durante el seguimiento.  Conclusiones: La correlación de las características clínicas y de las imágenes (tomografía y microscopía electrónica) puede ser útil para el diagnóstico de la disfunción del surfactante pulmonar, especialmente en los países de bajos y medianos recursos que no disponen de estudios genéticos para determinar las diferentes mutaciones del transportador ABCA3. Este es uno de los primeros casos reportados en Perú con respuesta adecuada al tratamiento y evolución favorable durante el seguimiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Genetic disorders affecting pulmonary surfactant homeostasis are a major cause of respiratory distress syndrome in full-term newborn and childhood interstitial lung disease. The ABCA3 transporter (ATP binding cassette A3) intervenes in the normal production of surfactant that covers the interior of alveolar walls and plays a fundamental role as a surfactant.  Case report: Male term newborn who presented respiratory distress 3 days after birth and required mechanical ventilation. Studies to determine other causes of lung disease were negative. Lung biopsy was performed for the study with light microscopy and electron microscopy. Electron microscopy showed small abnormal lamellar bodies in addition to peripheral electrodense condensations characteristic of ABCA3 transporter mutation. Treatment was started with pulses of methylprednisolone, hydroxychloroquine, azithromycin, and high-dose inhaled corticosteroids, finding a favorable clinical and radiological response to follow-up.  Conclusions: Correlation of clinical characteristics and images (tomography and electron microscopy) can be useful for the diagnosis of lung surfactant dysfunction, especially in low and medium-income countries where genetic studies to determine the different ABCA3 transporter mutations are not available. This is one of the first cases reported in Peru with an adequate response to treatment and favorable evolution to follow-up.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Surfactante pulmonar]]></kwd>
<kwd lng="es"><![CDATA[Transportador ABCA3]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades pulmonares]]></kwd>
<kwd lng="es"><![CDATA[Niño]]></kwd>
<kwd lng="es"><![CDATA[Recién nacido]]></kwd>
<kwd lng="en"><![CDATA[Pulmonary surfactants]]></kwd>
<kwd lng="en"><![CDATA[ATP binding cassette A3]]></kwd>
<kwd lng="en"><![CDATA[Lung diseases]]></kwd>
<kwd lng="en"><![CDATA[Child]]></kwd>
<kwd lng="en"><![CDATA[Newborn]]></kwd>
</kwd-group>
</article-meta>
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