<?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>0213-9111</journal-id>
<journal-title><![CDATA[Gaceta Sanitaria]]></journal-title>
<abbrev-journal-title><![CDATA[Gac Sanit]]></abbrev-journal-title>
<issn>0213-9111</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Salud Pública y Administración Sanitaria (SESPAS)]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0213-91112021000600551</article-id>
<article-id pub-id-type="doi">10.1016/j.gaceta.2020.07.011</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras]]></article-title>
<article-title xml:lang="en"><![CDATA[Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moreno-Marro]]></surname>
<given-names><![CDATA[Sandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barrachina-Bonet]]></surname>
<given-names><![CDATA[Laia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Páramo-Rodríguez]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alonso-Ferreira]]></surname>
<given-names><![CDATA[Verónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guardiola-Vilarroig]]></surname>
<given-names><![CDATA[Sandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vicente]]></surname>
<given-names><![CDATA[Esther]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-López]]></surname>
<given-names><![CDATA[María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Palomar-Rodríguez]]></surname>
<given-names><![CDATA[Joaquín]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zoni]]></surname>
<given-names><![CDATA[Ana Clara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zurriaga]]></surname>
<given-names><![CDATA[Óscar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A8 "/>
<xref ref-type="aff" rid="Af9"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cavero-Carbonell]]></surname>
<given-names><![CDATA[Clara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universitat de València Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana Unidad Mixta de Investigación en Enfermedades Raras]]></institution>
<addr-line><![CDATA[Valencia ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,CIBER de Enfermedades Raras (CIBERER) Instituto de Investigación de Enfermedades Raras ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,Conselleria de Sanitat, Comunitat Valenciana Dirección General de Salud Pública y Adicciones ]]></institution>
<addr-line><![CDATA[Valencia ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Instituto de Investigación Sanitaria de Navarra (IdiSNA) Instituto de Salud Pública y Laboral de Navarra Sección del Observatorio de la Salud Comunitaria]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Consejería de Sanidad, Junta de Castilla y León  Servicio de Información de Salud Pública]]></institution>
<addr-line><![CDATA[Valladolid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Consejería de Salud, Región de Murcia Servicio de Planificación y Financiación Sanitaria ]]></institution>
<addr-line><![CDATA[Murcia ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Consejería de Sanidad de la Comunidad de Madrid Dirección General de Salud Pública Servicio de Informes de Salud y Estudios]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,CIBER de Epidemiología y Salud Pública (CIBERESP)  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Universitat de València Departamento de Medicina Preventiva y Salud Pública, Ciencias de la Alimentación, Toxicología y Medicina Legal ]]></institution>
<addr-line><![CDATA[Valencia ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>35</volume>
<numero>6</numero>
<fpage>551</fpage>
<lpage>558</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0213-91112021000600551&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S0213-91112021000600551&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S0213-91112021000600551&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo:  Evaluar las fuentes de información empleadas por los Registros Autonómicos de Enfermedades Raras (RAER) para la captación de la enfermedad de Wilson en España, calcular su prevalencia y mortalidad, y describir las características sociodemográficas de las personas afectadas.  Método:  Estudio epidemiológico transversal, periodo 2010-2015. Se captaron los posibles casos mediante los códigos 275.1 (CIE-9-MC), E83.0 (CIE-10) y 905 ORPHA en 15 RAER y el Registro de Pacientes de Enfermedades Raras del Instituto de Salud Carlos III. Los diagnósticos fueron validados revisando la documentación clínica. Se calcularon el valor predictivo positivo (VPP) de las fuentes de información, la prevalencia, la mortalidad y la distribución de las características sociodemográficas.  Resultados:  El Conjunto Mínimo Básico de Datos (CMBD) fue la fuente de información más utilizada por los RAER (VPP = 39,4%), seguida del Registro de Medicamentos Huérfanos (RMH) (VPP = 81,9%). La Historia Clínica de Atención Primaria (HCAP) obtuvo un VPP del 55,9%. Las combinaciones con mayor VPP fueron las del RMH con el CMBD (VPP = 95,8%) y del RMH con la HCAP (VPP = 92,9%). Se confirmaron 514 casos, el 57,2% eran hombres, cuya edad mediana de diagnóstico fue de 21,3 años. La prevalencia fue de 1,64/100.000 habitantes en 2015 y la mortalidad del 3,0%, siendo ambas superiores en los hombres.  Conclusión:  Se recomienda la incorporación en los RAER del RMH y de la HCAP, ya que su combinación y la del RMH con el CMBD podrían utilizarse como criterio de validación automática para la enfermedad de Wilson. La prevalencia obtenida fue similar a la de otros países próximos a España.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Objective:  To evaluate the sources of information used by the Regional Population-based Registries of Rare Diseases (RRD) for Wilson's Disease identification in Spain; to calculate its prevalence and mortality; and to describe the sociodemographic characteristics of those affected.  Method:  Cross-sectional epidemiological study, period 2010-2015. Possible cases were identified by codes 275.1 (ICD-9-CM), E83.0 (ICD-10) and 905 (ORPHAcode) in: 15 participating RRD and the Rare Disease Patients Registry of the Carlos III Health Institute. The diagnoses were confirmed through a clinical documentation review. The positive predictive value (PPV) of the sources of information used by RRD and their combinations were obtained. The prevalence, mortality and the distribution of sociodemographic characteristics were calculated.  Results:  The Hospital Discharge Database (HDD) was the most used source by the RRD (PPV = 39.4%), followed by the Orphan Drugs Registry (ODR) (PPV = 81.9%). The Clinical History of Primary Care (PC) obtains PPV = 55.9%. The combinations with highest PPV were the ODR with HDD (PPV = 95.8%) and the ODR with PC (PPV = 92.9%). 514 cases were confirmed, 57.2% men, with a median age of diagnosis of 21.3 years. The prevalence was 1.64/100,000 inhabitants in 2015 and mortality rate was 3.0%, being both higher in men.  Conclusions:  Incorporation of ODR and PC into the RRD is recommended, as its combination and ODR with HDD could be used as an automatic validation criterion for Wilson's disease. The prevalence obtained was similar to that of countries close to Spain.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedades raras]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Wilson]]></kwd>
<kwd lng="es"><![CDATA[Sistemas de información en salud]]></kwd>
<kwd lng="es"><![CDATA[Fuentes de datos]]></kwd>
<kwd lng="es"><![CDATA[Epidemiología]]></kwd>
<kwd lng="es"><![CDATA[Prevalencia]]></kwd>
<kwd lng="en"><![CDATA[Rare diseases]]></kwd>
<kwd lng="en"><![CDATA[Wilson disease]]></kwd>
<kwd lng="en"><![CDATA[Health information systems]]></kwd>
<kwd lng="en"><![CDATA[Data sources]]></kwd>
<kwd lng="en"><![CDATA[Epidemiology]]></kwd>
<kwd lng="en"><![CDATA[Prevalence]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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