<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000301216</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.2.5</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Estudio descriptivo de pacientes con patología genética en una unidad de cuidados intensivos pediátricos]]></article-title>
<article-title xml:lang="en"><![CDATA[Descriptive study of patients with genetic pathology in a pediatric intensive care unit]]></article-title>
<article-title xml:lang="pt"><![CDATA[Estudo descritivo de pacientes com patologia genética internados em unidade de terapia intensiva pediátrica]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moraes]]></surname>
<given-names><![CDATA[Mariana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez]]></surname>
<given-names><![CDATA[Soledad]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tapié]]></surname>
<given-names><![CDATA[Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández]]></surname>
<given-names><![CDATA[Alicia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Raggio]]></surname>
<given-names><![CDATA[Víctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Genética]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Genética]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Genética]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Asociación Española Terapia Intensiva Pediátrica ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af5">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Genética]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000301216&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000301216&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000301216&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: Atendiendo a la importancia de la patología genética en pediatría, causa significativa de morbimortalidad infantil y teniendo en cuenta el aumento de pacientes con dicha patología en las unidades de cuidados intensivos pediátricos (UCIP), realizamos un estudio prospectivo, descriptivo y transversal desde el 1º de enero de 2020 al 31 de diciembre de 2021 en una UCIP de Uruguay. Se enrolaron todos los pacientes egresados de la UCIP con diagnóstico de patología genética confirmada o sospechada. La prevalencia de patología genética fue de 17/244. Las enfermedades monogénicas fueron las más frecuentes (9/17), seguidas de las enfermedades genéticas sospechadas sin orientación etiológica (6/17) y luego las anomalías cromosómicas (2/17). La frecuencia de mortalidad, así como los días de internación promedio para estos pacientes fue mayor; 12/17 fueron sometidos a alguna maniobra invasiva durante su estadía. Creemos que es fundamental que los actores de la salud cuenten con la formación adecuada para detectar signos de alarma que permitan sospechar una enfermedad genética, contar con los recursos humanos especializados en dicha área, así como con los recursos financieros; lo que se logra a través de políticas de salud que contemplen estas enfermedades, las que individualmente son poco frecuentes, pero que en conjunto afectan a una parte importante de la población.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Summary: Given the importance of genetic pathology in pediatrics, a significant cause of infant morbidity and mortality, and taking into account the increase in patients with this pathology in Pediatric Intensive Care Units (PICU), we carried out a prospective, descriptive and cross-sectional study from January 1, 2020 to December 31, 2021 in a PICU in Uruguay. All patients discharged from the PICU with a diagnosis of confirmed or suspected genetic pathology were enrolled. The prevalence of genetic pathology was 17/244. Monogenic diseases were the most frequent (9/17), followed by suspected genetic diseases with no etiological orientation (6/17) and then chromosomal abnormalities (2/17). The frequency of mortality as well as the average days of hospitalization for these patients was higher. 12/17 underwent some invasive maneuvers or prosthesis placement during their stay. We believe it is essential that health providers have adequate training to detect warning signs to suspect a genetic disease, have specialized human resources in this area, as well as financial resources; this can mainly be achieved through health policies that contemplate this disease that individually are rare, but overall affect a significant part of the population.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: Considerando a importância da patologia genética em pediatria, causa significativa de morbimortalidade infantil, e tendo em conta o aumento de pacientes com esta patologia em Unidades de Terapia Intensiva Pediátrica (UTIP), realizamos um estudo prospectivo, descritivo e transversal de 1º de janeiro de 2020 a 31 de dezembro de 2021 em uma UTIP no Uruguai. Foram incluídos todos os pacientes que receberam alta da UTIP com diagnóstico de patologia genética confirmada ou suspeita. A prevalência de patologia genética foi de 17/244. As doenças monogênicas foram as mais frequentes (9/17), seguidas pelas suspeitas de doenças genéticas sem orientação etiológica (6/17) e depois pelas anomalias cromossômicas (2/17). A frequência de mortalidade, bem como a média de dias de internação desses pacientes, foi maior. 17/12 foram submetidos a alguma manobra invasiva durante sua internação. Acreditamos ser fundamental que as assistências médicas tenham formação adequada para detectar sinais de alerta que lhes permitam suspeitar de uma doença genética, tenham recursos humanos especializados nesta área, bem como recursos financeiros; o que é alcançado por meio de políticas de saúde que contemplem essas doenças, que individualmente são raras, mas que em conjunto afetam uma parte importante da população.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Genética Médica]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades Raras]]></kwd>
<kwd lng="es"><![CDATA[Unidades de Cuidado Intensivo Pediátrico]]></kwd>
<kwd lng="en"><![CDATA[Medical Genetics]]></kwd>
<kwd lng="en"><![CDATA[Rare Diseases]]></kwd>
<kwd lng="en"><![CDATA[Pediatric Intensive Care Units]]></kwd>
<kwd lng="pt"><![CDATA[Genética Médica]]></kwd>
<kwd lng="pt"><![CDATA[Doenças Raras]]></kwd>
<kwd lng="pt"><![CDATA[Unidades de Terapia Intensiva Pediátrica]]></kwd>
</kwd-group>
</article-meta>
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