<?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>S0034-75312020000300013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mala absorción de glucosa y de galactosa y su asociación con el síndrome de Down]]></article-title>
<article-title xml:lang="en"><![CDATA[Malabsorption of glucose and galactose and its relation with Down sydrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ait idir]]></surname>
<given-names><![CDATA[Karim]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Especializado de Consulta Servicio de Pediatría ]]></institution>
<addr-line><![CDATA[Hussein Dey, Argel ]]></addr-line>
<country>Argelia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2020</year>
</pub-date>
<volume>92</volume>
<numero>3</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312020000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312020000300013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312020000300013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La malabsorción de glucosa y de galactosa es una enfermedad genética autosómica recesiva debida a una mutación que afecta al cotransportador de sodio-glucosa.  Objetivo:  Describir una asociación infrecuente entre el síndrome de Down y la mala absorción de glucosa y de galactosa.  Presentación del caso:  Niño desnutrido de 3 ½ meses de edad con síndrome de Down, de padres consanguíneos. Presentó precozmente diarrea explosiva, vómitos con deshidratación. Se mejoró tras la eliminación de la alimentación oral y la perfusión hidroelectrolítica y empeoró con la utilización de las sales de rehidratación oral y las fórmulas lácteas, sin proteínas de leche de vaca. El estudio de las heces mostró un pH fecal /5, presencia de glucosa, ionograma de las 24 horas fue: sodio 0,5 mEq (1-10), potasio 2,6 mEq (8-22) y el cálculo realizado para distinguir entre diferentes causas de diarrea dio aumentado: 168 mOsm/kg (50-125). Ante este cuadro clínico se consideró el diagnóstico de malabsorción de glucosa y de galactosa sobre todo tras la mejora de la sintomatología bajo dieta exclusivamente azucarada con fructosa.  Conclusiones: Es importante tener en cuenta la malabsorción de glucosa y de galactosa dentro de los diagnósticos diferenciales de las diarreas acuosas congénitas. El diagnóstico precoz y la dieta adecuada con fructosa evitan deshidratación y malnutrición. La particularidad de nuestro caso es la asociación de la malabsorción de glucosa y de galactosa con el síndrome de Down, que, según nuestro conocimiento, es la primera vez que se describe y podría aumentar la morbilidad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Malabsorption of glucose and galactose is a genetic autosomic recesive disease caused by a mutation that affects the co-transportator of sodium-glucose.  Objective: To describe an unfrequent relation between the Down syndrome and the malabsortion of glucose and galactose.  Case presentation:  Undernourished child, 3 and half months old with Down syndrome from parents by blood. He early presented explosive diarrhea and vomiting with dehydration. He improved his state after elimination of oral feeding and a hydroelectrolitic perfusion, and his state worsened with the use of oral rehydration salts and dairy formula, even without cow´s milk proteins. The study of feces showed a fecal pH /5, presence of glucose, and the ionogram after 24 hours showed: sodium 0,5mEg (1-10), potasium 2,6 mEg (8-22) and the calculation made to identify the different causes of diarrhea was increased: 168 mOsm/kg (50-125). Having this clinical records, it was considered a diagnostic of glucose and galactose malabsorption, mainly after the improvement of the symptoms under a diet exclusively sugared with fructose.  Conclusions:  It is important to take into account glucose and galactose malabsortion in the differential diagnosis of congenital watery diahrrea. The early diagnosis and an adequate diet with fructose avoid dehytration and malnutrition. The particularity of this case is the relation of glucose and galactose malabsorption with Down syndrome, that according to our knowledge is the first time it is described and it can increase the morbility.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[diarrea congénita]]></kwd>
<kwd lng="es"><![CDATA[malabsorción de glucosa y galactosa]]></kwd>
<kwd lng="es"><![CDATA[neonato]]></kwd>
<kwd lng="es"><![CDATA[gen SLCSA1]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Down]]></kwd>
<kwd lng="en"><![CDATA[congenital diarrhea]]></kwd>
<kwd lng="en"><![CDATA[glucose and galactose malabsortion]]></kwd>
<kwd lng="en"><![CDATA[newborn]]></kwd>
<kwd lng="en"><![CDATA[SLCSA1 gen]]></kwd>
<kwd lng="en"><![CDATA[Down syndrome]]></kwd>
</kwd-group>
</article-meta>
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