<?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>1692-7273</journal-id>
<journal-title><![CDATA[Revista Ciencias de la Salud]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Cienc. Salud]]></abbrev-journal-title>
<issn>1692-7273</issn>
<publisher>
<publisher-name><![CDATA[Editorial Universidad del Rosario]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1692-72732024000222210</article-id>
<article-id pub-id-type="doi">10.12804/revistas.urosario.edu.co/revsalud/a.l2474</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Raquitismo hipofosfatémico ligado al cromosoma X: a propósito de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[X-Linked Hypophosphatemia: A case report]]></article-title>
<article-title xml:lang="pt"><![CDATA[Raquitismo hipofosfatêmico ligado ao cromossomo X: relato de caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tascón Arcila]]></surname>
<given-names><![CDATA[José Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baquero Rodríguez]]></surname>
<given-names><![CDATA[María Carmen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Serrano Gayubo]]></surname>
<given-names><![CDATA[Ana Katherina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baquero Rodríguez]]></surname>
<given-names><![CDATA[Richard]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Antioquia Facultad de Medicina Departamento de Pediatría y Puericultura]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Antioquia Facultad de Medicina Departamento de Pediatría y Puericultura]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad CES Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Medellín Antioquia]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2024</year>
</pub-date>
<volume>22</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1692-72732024000222210&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1692-72732024000222210&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1692-72732024000222210&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  el raquitismo se caracteriza por una alteración en la mineralización normal del tejido óseo y, según la causa, se clasifica en formas adquiridas o hereditarias. De los raquitismos hereditarios, el raquitismo hipofosfatémico ligado al cromosoma X es el más común. Se distingue por anomalías en el metabolismo del fósforo, secundario a una alteración en el gen PHEX, ubicado en el cromosoma X. Como resultado de esta alteración se afecta la codificación de una metaloproteasa, cuya función es disminuir las concentraciones séricas del factor de crecimiento flbroblástico-23, que resulta en la pérdida anormal de fósforo por orina. Clínicamente, se presenta con deformidades óseas en los miembros inferiores, dolor óseo, talla baja y alteraciones dentales. El diagnóstico es clínico, asociado con hipofosfatemia, fosfaturia y hallazgos radiológicos de raquitismo, que se confirman con la prueba molecular variante patogénica del gen PHEX.  Presentación del caso:  se describe el caso de una paciente de 5 años de edad a quien se le diagnosticó esta enfermedad, lo que permitió el inicio de un tratamiento oportuno y un abordaje integral.  Conclusión:  por tratarse de una enfermedad hereditaria poco común, con debut en la infancia y gran impacto en el crecimiento longitudinal y salud ósea que afecta la calidad de vida de los niños, el conocimiento de este caso tiene como objetivo brindar herramientas básicas para un abordaje que lleve a un diagnóstico temprano, dado que esto es clave para el pronóstico, seguimiento y tratamiento multidisciplinario de esta patología.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Rickets is characterized by an alteration in the normal mineralization of bone tissue and can be classified into acquired or hereditary forms. X-linked hypophosphatemic rickets (XLH) is the most common cause of hereditary forms. It is distinguished by an abnormal phosphorus metabolism attributed to a mutation in the PHEX gene (phosphate regulating endopeptidase analog, X-linked), located on the X chromosome. This abnormal gene affects the encoding of a metalloprotease responsible for decreasing serum levels of fibroblast growth factor - 23 (FGF-23), leading to an abnormal loss of phosphorus through urine. Patients present with bone deformities in the lower limbs, bone pain, short stature, and dental abnormalities. The diagnosis is made by the clinical presentation, associated with hypophosphatemia, phosphaturia and radiological findings suggestive of rickets and it is confirmed by molecular testing with the identification of the mutation in the PHEX gene.  Case presentation:  We describe the case of a 5-year-old patient diagnosed with XLH. Early diagnosis allowed to have an early treatment implementation, resulting in improved clinical outcomes.  Conclusion:  As a rare hereditary disease with onset in childhood and significant impact on longitudinal growth, bone health and potential impacts on the children quality of life, we aim to provide basic clinical tools for a comprehensive diagnostic approach of XLH.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução:  o raquitismo é caracterizado por uma alteração na mineralização normal do tecido ósseo, sendo classificado de acordo com a causa em formas adquiridas ou hereditárias. Dos raquitismos hereditários, o raquitismo hipofosfatêmico ligado ao cromossomo X é o mais comum. É caracterizado por anormalidades no metabolismo do fósforo, secundárias a uma alteração no gene PHEX (phosphate regulating endopeptidase analog, X-linked), diminuição dos níveis séricos do fator de crescimento de fibroblastos-23 (FGF-23), o que resulta em perda anormal de fósforo pela urina. Clinicamente apresenta-se com deformidades ósseas nos membros inferiores, dores ósseas, baixa estatura e alterações dentárias. O diagnóstico é clínico, associado a hipofosfatemia, fosfatúria e achados radiológicos de raquitismo, confirmado com teste molecular para variante patogênica do gene PHEX.  Apresentação do caso:  descreve-se o caso de um paciente de 5 anos que foi diagnosticado com esta doença, o que permitiu o início do tratamento oportuno e uma abordagem abrangente.  Conclusão:  por se tratar de uma doença hereditária rara, com início na infância e grande impacto no crescimento longitudinal e na saúde óssea que afeta a qualidade de vida das crianças, o conhecimento deste caso visa fornecer ferramentas básicas para uma abordagem que resulte em um diagnóstico precoce, visto que este é fundamental para o prognóstico, acompanhamento e tratamento multidisciplinar desta patologia.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[raquitismo]]></kwd>
<kwd lng="es"><![CDATA[raquitismo hipofosfatémico]]></kwd>
<kwd lng="es"><![CDATA[hipofosfatemia]]></kwd>
<kwd lng="es"><![CDATA[fósforo]]></kwd>
<kwd lng="en"><![CDATA[Rickets]]></kwd>
<kwd lng="en"><![CDATA[hypophosphatemic rickets]]></kwd>
<kwd lng="en"><![CDATA[hypophosphatemia]]></kwd>
<kwd lng="en"><![CDATA[phosphorus]]></kwd>
<kwd lng="pt"><![CDATA[raquitismo]]></kwd>
<kwd lng="pt"><![CDATA[raquitismo hipofosfatêmico]]></kwd>
<kwd lng="pt"><![CDATA[hipofosfatemia]]></kwd>
<kwd lng="pt"><![CDATA[fósforo]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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