<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312023000100038</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedades raras en la infancia. Visión gastroenterológica]]></article-title>
<article-title xml:lang="en"><![CDATA[Rare Diseases in Childhood. Gastroenterological View]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castañeda Guillot]]></surname>
<given-names><![CDATA[Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Regional Autónoma de Los Andes (UNIANDES)  ]]></institution>
<addr-line><![CDATA[ Ambato]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de La Habana  ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2023</year>
</pub-date>
<volume>95</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312023000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312023000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312023000100038&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  Las enfermedades raras conforman las afecciones de baja prevalencia que asociadas a los medicamentos huérfanos representan un problema sanitario y social mundial.  Objetivo:  Revisar los aspectos más sobresalientes relacionados con las enfermedades raras, con una visión gastroenterológica, y su repercusión en la infancia.  Métodos:  Se realizaron búsquedas no estructuradas de publicaciones en español e inglés en PubMed, Google Scholar, Scimago, SciELO, desde enero 2010 hasta agosto 2021. Se usaron los términos: enfermedades raras, conceptualización, prevalencia, epidemiología, medicamentos huérfanos y ética.  Análisis y síntesis de la información: Se revisaron las enfermedades raras en la infancia, criterios conceptuales, epidemiología global, enfermedades más reconocidas con énfasis en gastroenterología. Se destacó la prevalencia, vínculo genético, importancia social, dilema diagnóstico y categorías; repercusión de los tratamientos con medicamentos huérfanos, sus costos y problemas éticos. Se resaltó la incidencia de enfermedades digestivas y el valor de la endoscopia y la biopsia en el diagnóstico.  Conclusiones: Se documentaron las enfermedades raras en la infancia, y se analizaron como problema mundial, sanitario y social. El desarrollo de la técnica y de la ciencia, resultaron contribuciones decisivas que variaron criterios sobre diferentes afecciones catalogadas como raras.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Rare diseases are the conditions of low prevalence associated with orphan drugs and they represent a global health and social problem.  Objective:  To review the most outstanding aspects related to rare diseases, with a gastroenterological view, and their impact on childhood.  Methods:  Unstructured searches for publications in Spanish and English in PubMed, Google Scholar, Scimago, SciELO were conducted, from January 2010 to August 2021. The terms rare diseases, conceptualization, prevalence, epidemiology, orphan drugs and ethics were used.  Analysis and synthesis of information:  Rare diseases in childhood, conceptual criteria, global epidemiology, and the most well-known diseases with emphasis on gastroenterology were reviewed. Prevalence, genetic link, social importance, diagnostic dilemma and categories, also the impact of orphan drug treatments, their costs and ethical problems were highlighted. The incidence of digestive diseases and the value of endoscopy and biopsy in diagnosis were highlighted.  Conclusions:  Rare diseases in childhood were documented and analyzed as a global health and social problem. The development of technique and science were decisive contributions that varied criteria on different conditions classified as rare.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[enfermedades raras]]></kwd>
<kwd lng="es"><![CDATA[conceptualización]]></kwd>
<kwd lng="es"><![CDATA[prevalencia]]></kwd>
<kwd lng="es"><![CDATA[epidemiologia]]></kwd>
<kwd lng="es"><![CDATA[medicamentos huérfanos]]></kwd>
<kwd lng="es"><![CDATA[ética]]></kwd>
<kwd lng="en"><![CDATA[rare diseases]]></kwd>
<kwd lng="en"><![CDATA[conceptualization]]></kwd>
<kwd lng="en"><![CDATA[prevalence]]></kwd>
<kwd lng="en"><![CDATA[epidemiology]]></kwd>
<kwd lng="en"><![CDATA[orphan drugs]]></kwd>
<kwd lng="en"><![CDATA[ethics]]></kwd>
</kwd-group>
</article-meta>
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