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array:22 [ "pii" => "S0025775304746618" "issn" => "00257753" "doi" => "10.1016/S0025-7753(04)74661-8" "estado" => "S300" "fechaPublicacion" => "2004-10-01" "aid" => "74661" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2004" "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2004;123:761-5" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 3951 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 3212 "PDF" => 732 ] ] "itemSiguiente" => array:18 [ "pii" => "S002577530474662X" "issn" => "00257753" "doi" => "10.1016/S0025-7753(04)74662-X" "estado" => "S300" "fechaPublicacion" => "2004-10-01" "aid" => "74662" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2004;123:766-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 5313 "formatos" => array:3 [ "EPUB" => 8 "HTML" => 4749 "PDF" => 556 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Hiperleptinemia como factor de riesgo en hipertensión arterial asociada a obesidad" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "766" "paginaFinal" => "769" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Hyperleptinemia as a risk factor in obesity-related hypertension" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:2 [ 0 => array:2 [ "autoresLista" => "Cleto álvarez-Aguilara, I Lourdes Mondragón-Jiménez, Anel Gómez-Garcíac, Ramón Paniagua-Sierrad, Dante Amatod" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Cleto" "apellidos" => "álvarez-Aguilara" ] 1 => array:2 [ "nombre" => "I" "apellidos" => "Lourdes Mondragón-Jiménez" ] 2 => array:2 [ "nombre" => "Anel" "apellidos" => "Gómez-Garcíac" ] 3 => array:2 [ "nombre" => "Ramón" "apellidos" => "Paniagua-Sierrad" ] 4 => array:2 [ "nombre" => "Dante" "apellidos" => "Amatod" ] ] ] 1 => array:2 [ "autoresLista" => "Jesús Ramírez-Enríquez" "autores" => array:1 [ 0 => array:2 [ "nombre" => "Jesús" "apellidos" => "Ramírez-Enríquez" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S002577530474662X?idApp=UINPBA00004N" "url" => "/00257753/0000012300000020/v1_201307291640/S002577530474662X/v1_201307291640/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Déficit de alfa-1-antitripsina en España (variantes deficientes PI<span class="elsevierStyleSup">*</span>S y PI<span class="elsevierStyleSup">*</span>Z): prevalencia estimada y número de sujetos calculados para cada fenotipo" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "761" "paginaFinal" => "765" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Ignacio Blanco, Enrique Fernández-Bustillo, Frederick J. de Serres, Daniel Alkassam, Carmen Rodríguez Menéndez" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Ignacio" "apellidos" => "Blanco" "email" => array:1 [ 0 => "ignacio.blanco@sespa.princast.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Enrique" "apellidos" => "Fernández-Bustillo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Frederick J." "apellidos" => "de Serres" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Daniel" "apellidos" => "Alkassam" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 4 => array:3 [ "nombre" => "Carmen" "apellidos" => "Rodríguez Menéndez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] ] "afiliaciones" => array:5 [ 0 => array:3 [ "entidad" => "Sección de Neumología. Servicio de Medicina Interna. Hospital Valle del Nalón. Langreo. Principado de Asturias" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Bioestadística. Hospital Universitario Central de Asturias. Oviedo. Principado de Asturias" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Laboratory of Molecular Toxicology. Environmental Toxicology Program.National Institute of Environmental Health Sciences. Chapel Hill. North Carolina. EE.UU" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Análisis Clínicos. Hospital Valle del Nalón. Langreo. Principado de Asturias" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Servicio de Análisis Clínicos. Instituto Nacional de Silicosis. Hospital Universitario Central de Asturias.Oviedo. Principado de Asturias. España" "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Sección de Neumología. Servicio de Medicina Interna.Hospital Valle del Nalón.Polígono de Riaño, s/n. 33194 Riaño.Principado de Asturias. España.Correo electrónico" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "PI<span class="elsevierStyleSup">*</span>S and PI<span class="elsevierStyleSup">*</span>Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in spain" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2004-02-16" "fechaAceptado" => "2004-07-27" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222457" "palabras" => array:5 [ 0 => "Alfa-1-antitripsina" 1 => "Déficit de alfa-1-antitripsina" 2 => "Fenotipos PI" 3 => "Epidemiología genética" 4 => "España" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec222458" "palabras" => array:5 [ 0 => "Alpha 1-antitrypsin" 1 => "Alpha 1-antitrypsin deficiency" 2 => "PI phenotypes" 3 => "Genetic epidemiology" 4 => "Spain" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento y objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El déficit de alfa-1-antitripsina (DAAT) es un trastorno hereditario conun riesgo incrementado de padecer enfisema pulmonar y hepatopatías crónicas en niños yadultos. Actualmente existe en España la posibilidad de aplicar tratamiento sustitutivo a pacientescon déficit grave que cumplan los requisitos establecidos por el Registro Español dePacientes con DAAT, por lo que consideramos importante conocer el número de sujetos conDAAT en sus variantes PIS y PIZ y su distribución por fenotipos</p> <span class="elsevierStyleSectionTitle">Sujetos, material y método</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Selección de estudios publicados sobre frecuencias alélicas PIS yPIZ en poblaciones españolas, con los siguientes criterios: a) método fiable de identificaciónde fenotipos; b) no ser estudios de cribado; c) factor de precisión estadística mayor o igual a 5,y d) muestras representativas de la población general de la comunidad</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Se seleccionaron 34 cohortes, que quedaron reducidas a 4 tras eliminar las que nocumplieron los criterios requeridos. Las frecuencias medias (en tanto por 1.000) fueron: 104(intervalo de confianza [IC] del 95%, 96-113) para PI<span class="elsevierStyleSup">*</span>S y 17 (IC del 95%, 14-21) para PI<span class="elsevierStyleSup">*</span>Z.Extrapolando estos datos al total de la población, calculamos que habría en España 9.173.181individuos con DAAT (IC del 95%, 9.167.966-9.178.398), con la siguiente distribución porfenotipos: PIMS, 7.358.263 (IC del 95%, 6.696.222-8.072.328); PIMZ, 1.222.041 (IC del95%, 972.767-1.539.805); PISS, 436.023 (IC del 95%, 369.057-514.244); PISZ, 144.827(IC del 95%, 107.227-195.038), y PIZZ, 12.026 (IC del 95%, 7.788-18.493). La prevalenciaglobal calculada del DAAT fue de un deficiente por cada 4,4 sujetos, con la siguiente distribución:PIMS, 1/5; PIMZ, 1/33; PISS, 1/92; PISZ, 1/278, y PIZZ, 1/3.344</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">El DAAT es una enfermedad frecuente e infradiagnosticada</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background and objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Alpha-1-antitrypsin deficiency (AATD) is an hereditary disorder withincreased risk of pulmonary emphysema and chronic liver diseases in children and adults. Sinceit is possible currently in Spain to apply alpha-1-antitrypsin replacement therapy to AATDpatients, the objective of this study was to calculate the total number of subjects affected byPIS and PIZ AATD, and its phenotypic distribution</p> <span class="elsevierStyleSectionTitle">Subjects, material and method</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Selection of published studies on allelic frequencies PIS and PIZaccording to the following criteria: a) alpha-1-antitrypsin phenotyping performed by isoelectrofocusing;b) rejection of »screening studies»; c) statistic precision factor score of 5, and d)samples representative of the Spanish general population</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Four out 34 cohorts were selected. Mean gene frequencies (per 1,000) were: 104(95% confidence interval [CI], 96-113) for PI<span class="elsevierStyleSup">*</span>S and 17 (95% CI, 14-21) for PI<span class="elsevierStyleSup">*</span>Z. These dataindicated that it would exist in Spain 9,173,181 AATD subjects (95% CI, 9,167,966-9,178,398), with the following phenotypic distribution: 7,358,263 (95% CI, 6,696,222-8,072,328) for PIMS; 1,222,041 (95% CI, 972,767-1,539,805) for PIMZ; 436,023 (95% CI,369,057-514,244) for PISS; 144,827 (95% CI, 107,227-195,038) for PISZ; and 12,026(95% CI, 7,788-18,493) for PIZZ. The global prevalence was 1 out of 4.4 individuals, with thefollowing distribution: PIMS 1/5; PIMZ 1/33; PISS 1/92; PISZ 1/278; and PIZZ 1/3,344</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">AATD is a frequent but underdiagnosed disease in Spain</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias bibliográficas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:50 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." 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