array:21 [
  "pii" => "X0211699513003255"
  "issn" => "02116995"
  "doi" => "10.3265/Nefrologia.pre2012.Sep.11558"
  "estado" => "S300"
  "fechaPublicacion" => "2013-05-01"
  "documento" => "article"
  "licencia" => "http://www.elsevier.com/open-access/userlicense/1.0/"
  "subdocumento" => "fla"
  "cita" => "Nefrologia. 2013;33:308-15"
  "abierto" => array:3 [
    "ES" => true
    "ES2" => true
    "LATM" => true
  ]
  "gratuito" => true
  "lecturas" => array:2 [
    "total" => 6260
    "formatos" => array:3 [
      "EPUB" => 291
      "HTML" => 5135
      "PDF" => 834
    ]
  ]
  "Traduccion" => array:1 [
    "en" => array:17 [
      "pii" => "X2013251413003252"
      "issn" => "20132514"
      "doi" => "10.3265/Nefrologia.pre2012.Sep.11558"
      "estado" => "S300"
      "fechaPublicacion" => "2013-05-01"
      "documento" => "article"
      "licencia" => "http://www.elsevier.com/open-access/userlicense/1.0/"
      "subdocumento" => "fla"
      "cita" => "Nefrologia (English Version). 2013;33:308-15"
      "abierto" => array:3 [
        "ES" => true
        "ES2" => true
        "LATM" => true
      ]
      "gratuito" => true
      "lecturas" => array:2 [
        "total" => 4944
        "formatos" => array:3 [
          "EPUB" => 315
          "HTML" => 3872
          "PDF" => 757
        ]
      ]
      "en" => array:12 [
        "idiomaDefecto" => true
        "titulo" => "The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran"
        "tienePdf" => "en"
        "tieneTextoCompleto" => "en"
        "tieneResumen" => array:2 [
          0 => "es"
          1 => "en"
        ]
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "308"
            "paginaFinal" => "315"
          ]
        ]
        "titulosAlternativos" => array:1 [
          "es" => array:1 [
            "titulo" => "Primer análisis genético molecular en personas que padecen cistinosis nefropática en el sudoeste de Irán"
          ]
        ]
        "contieneResumen" => array:2 [
          "es" => true
          "en" => true
        ]
        "contieneTextoCompleto" => array:1 [
          "en" => true
        ]
        "contienePdf" => array:1 [
          "en" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:8 [
            "identificador" => "fig1"
            "etiqueta" => "Tab.  1"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "copyright" => "Elsevier España"
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "11558_16025_36022_en_t111558i.jpg"
                "Alto" => 1965
                "Ancho" => 2161
                "Tamanyo" => 917989
              ]
            ]
            "descripcion" => array:1 [
              "en" => "Clinical findings in patients with cystinosis"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "Sepideh Shahkarami, sepideh shahkarami, Hamid Galehdari, hamid Galehdari, Ali Ahmadzadeh, ali ahmadzadeh, Mahnaz Babaahmadi, Mohammad Pedram"
            "autores" => array:10 [
              0 => array:2 [
                "nombre" => "Sepideh"
                "apellidos" => "Shahkarami"
              ]
              1 => array:2 [
                "nombre" => "sepideh"
                "apellidos" => "shahkarami"
              ]
              2 => array:2 [
                "nombre" => "Hamid"
                "apellidos" => "Galehdari"
              ]
              3 => array:2 [
                "nombre" => "hamid"
                "apellidos" => "Galehdari"
              ]
              4 => array:2 [
                "nombre" => "Ali"
                "apellidos" => "Ahmadzadeh"
              ]
              5 => array:2 [
                "nombre" => "ali"
                "apellidos" => "ahmadzadeh"
              ]
              6 => array:2 [
                "nombre" => "Mahnaz"
                "apellidos" => "Babaahmadi"
              ]
              7 => array:2 [
                "nombre" => "Mahnaz"
                "apellidos" => "Babaahmadi"
              ]
              8 => array:2 [
                "nombre" => "Mohammad"
                "apellidos" => "Pedram"
              ]
              9 => array:2 [
                "nombre" => "Mohammad"
                "apellidos" => "Pedram"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "en"
      "Traduccion" => array:1 [
        "es" => array:9 [
          "pii" => "X0211699513003255"
          "doi" => "10.3265/Nefrologia.pre2012.Sep.11558"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => true
            "ES2" => true
            "LATM" => true
          ]
          "gratuito" => true
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "es"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X0211699513003255?idApp=UINPBA000064"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X2013251413003252?idApp=UINPBA000064"
      "url" => "/20132514/0000003300000003/v0_201502091549/X2013251413003252/v0_201502091549/en/main.assets"
    ]
  ]
  "itemSiguiente" => array:17 [
    "pii" => "X0211699513003247"
    "issn" => "02116995"
    "doi" => "10.3265/Nefrologia.pre2013.Feb.11733"
    "estado" => "S300"
    "fechaPublicacion" => "2013-05-01"
    "documento" => "article"
    "licencia" => "http://www.elsevier.com/open-access/userlicense/1.0/"
    "subdocumento" => "fla"
    "cita" => "Nefrologia. 2013;33:316-24"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:2 [
      "total" => 10078
      "formatos" => array:3 [
        "EPUB" => 268
        "HTML" => 9221
        "PDF" => 589
      ]
    ]
    "es" => array:12 [
      "idiomaDefecto" => true
      "titulo" => "Primer episodio de infección peritoneal: descripción y factores pronósticos"
      "tienePdf" => "es"
      "tieneTextoCompleto" => "es"
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "316"
          "paginaFinal" => "324"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "First episodes of peritoneal infection: description and prognostic factors"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "es" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:8 [
          "identificador" => "fig1"
          "etiqueta" => "Tab.  1"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "copyright" => "Elsevier España"
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "11733_19904_35845_es_11733_t1.jpg"
              "Alto" => 408
              "Ancho" => 900
              "Tamanyo" => 255759
            ]
          ]
          "descripcion" => array:1 [
            "es" => "Datos al inicio del estudio. Se comparan los pacientes que han tenido alguna peritonitis durante el seguimiento frente a los que no han tenido ninguna"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => " Grupo Centro Diálisis Peritoneal (GCDP),  Grupo Centro de Diálisis Peritoneal (GCDP), José Portolés, Darío Janeiro, Luis Miguel Lou Arnal, Luis M. Lou-Arnal, Paula López-Sánchez, Mayra Ortega, Gloria del Peso, Carmen Felipe, Ana M Tato, Ana M. Tato, Mercedes Velo, Inés Castellano, Vicente Pérez-Díaz"
          "autores" => array:20 [
            0 => array:1 [
              "apellidos" => "Grupo Centro Diálisis Peritoneal (GCDP)"
            ]
            1 => array:1 [
              "apellidos" => "Grupo Centro de Diálisis Peritoneal (GCDP)"
            ]
            2 => array:2 [
              "nombre" => "José"
              "apellidos" => "Portolés"
            ]
            3 => array:2 [
              "nombre" => "Darío"
              "apellidos" => "Janeiro"
            ]
            4 => array:2 [
              "nombre" => "Luis Miguel"
              "apellidos" => "Lou Arnal"
            ]
            5 => array:2 [
              "nombre" => "Luis M."
              "apellidos" => "Lou-Arnal"
            ]
            6 => array:2 [
              "nombre" => "Paula"
              "apellidos" => "López-Sánchez"
            ]
            7 => array:2 [
              "nombre" => "Mayra"
              "apellidos" => "Ortega"
            ]
            8 => array:2 [
              "nombre" => "Gloria"
              "apellidos" => "del Peso"
            ]
            9 => array:2 [
              "nombre" => "Gloria"
              "apellidos" => "del Peso"
            ]
            10 => array:2 [
              "nombre" => "Carmen"
              "apellidos" => "Felipe"
            ]
            11 => array:2 [
              "nombre" => "Carmen"
              "apellidos" => "Felipe"
            ]
            12 => array:2 [
              "nombre" => "Ana M"
              "apellidos" => "Tato"
            ]
            13 => array:2 [
              "nombre" => "Ana M."
              "apellidos" => "Tato"
            ]
            14 => array:2 [
              "nombre" => "Mercedes"
              "apellidos" => "Velo"
            ]
            15 => array:2 [
              "nombre" => "Mercedes"
              "apellidos" => "Velo"
            ]
            16 => array:2 [
              "nombre" => "Inés"
              "apellidos" => "Castellano"
            ]
            17 => array:2 [
              "nombre" => "Inés"
              "apellidos" => "Castellano"
            ]
            18 => array:2 [
              "nombre" => "Vicente"
              "apellidos" => "Pérez-Díaz"
            ]
            19 => null
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "Traduccion" => array:1 [
      "en" => array:9 [
        "pii" => "X2013251413003244"
        "doi" => "10.3265/Nefrologia.pre2013.Feb.11733"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "en"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X2013251413003244?idApp=UINPBA000064"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X0211699513003247?idApp=UINPBA000064"
    "url" => "/02116995/0000003300000003/v0_201502091323/X0211699513003247/v0_201502091323/es/main.assets"
  ]
  "itemAnterior" => array:17 [
    "pii" => "X0211699513003263"
    "issn" => "02116995"
    "doi" => "10.3265/Nefrologia.pre2013.Feb.11638"
    "estado" => "S300"
    "fechaPublicacion" => "2013-05-01"
    "documento" => "article"
    "licencia" => "http://www.elsevier.com/open-access/userlicense/1.0/"
    "subdocumento" => "fla"
    "cita" => "Nefrologia. 2013;33:301-7"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:2 [
      "total" => 11899
      "formatos" => array:3 [
        "EPUB" => 270
        "HTML" => 10902
        "PDF" => 727
      ]
    ]
    "es" => array:12 [
      "idiomaDefecto" => true
      "titulo" => "Nuevos modelos de gestión de asistencia integral en nefrología"
      "tienePdf" => "es"
      "tieneTextoCompleto" => "es"
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "301"
          "paginaFinal" => "307"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "New models of integrated health care management in nephrology"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "es" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:8 [
          "identificador" => "fig1"
          "etiqueta" => "Fig. 1"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "copyright" => "Elsevier España"
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "11638_19904_33598_es_11638_f1.jpg"
              "Alto" => 637
              "Ancho" => 900
              "Tamanyo" => 111519
            ]
          ]
          "descripcion" => array:1 [
            "es" => "Grado de severidad/grado de los costes"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Rosa Ramos, Manolo Molina"
          "autores" => array:2 [
            0 => array:2 [
              "nombre" => "Rosa"
              "apellidos" => "Ramos"
            ]
            1 => array:2 [
              "nombre" => "Manolo"
              "apellidos" => "Molina"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "Traduccion" => array:1 [
      "en" => array:9 [
        "pii" => "X2013251413003260"
        "doi" => "10.3265/Nefrologia.pre2013.Feb.11638"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "en"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X2013251413003260?idApp=UINPBA000064"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X0211699513003263?idApp=UINPBA000064"
    "url" => "/02116995/0000003300000003/v0_201502091323/X0211699513003263/v0_201502091323/es/main.assets"
  ]
  "es" => array:11 [
    "idiomaDefecto" => true
    "titulo" => "Primer análisis genético molecular en personas que padecen cistinosis nefropática en el sudoeste de Irán"
    "tieneTextoCompleto" => 0
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "308"
        "paginaFinal" => "315"
      ]
    ]
    "autores" => array:1 [
      0 => array:3 [
        "autoresLista" => "Sepideh Shahkarami, sepideh shahkarami, Hamid Galehdari, hamid Galehdari, Ali Ahmadzadeh, ali ahmadzadeh, Mahnaz Babaahmadi, Mohammad Pedram"
        "autores" => array:10 [
          0 => array:3 [
            "nombre" => "Sepideh"
            "apellidos" => "Shahkarami"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "sepideh"
            "apellidos" => "shahkarami"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
          2 => array:4 [
            "nombre" => "Hamid"
            "apellidos" => "Galehdari"
            "email" => array:1 [
              0 => "galehdari187&#64;yahoo&#46;com"
            ]
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "affb"
              ]
            ]
          ]
          3 => array:4 [
            "nombre" => "hamid"
            "apellidos" => "Galehdari"
            "email" => array:1 [
              0 => "galehdari187&#64;yahoo&#46;com"
            ]
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "affc"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "Ali"
            "apellidos" => "Ahmadzadeh"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "ali"
            "apellidos" => "ahmadzadeh"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
          6 => array:3 [
            "nombre" => "Mahnaz"
            "apellidos" => "Babaahmadi"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">d</span>"
                "identificador" => "affd"
              ]
            ]
          ]
          7 => array:3 [
            "nombre" => "Mahnaz"
            "apellidos" => "Babaahmadi"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">d</span>"
                "identificador" => "affd"
              ]
            ]
          ]
          8 => array:3 [
            "nombre" => "Mohammad"
            "apellidos" => "Pedram"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
          9 => array:3 [
            "nombre" => "Mohammad"
            "apellidos" => "Pedram"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "affa"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:4 [
          0 => array:3 [
            "entidad" => " Research Center for Thalassemia and Hemoglobinopathy, Jondishapour University of Medical Sciences, Ahvaz,  Iran, "
            "etiqueta" => "<span class="elsevierStyleSup">a</span>"
            "identificador" => "affa"
          ]
          1 => array:3 [
            "entidad" => "Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz,  Iran, "
            "etiqueta" => "<span class="elsevierStyleSup">b</span>"
            "identificador" => "affb"
          ]
          2 => array:3 [
            "entidad" => "Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, ahvaz,  Iran, "
            "etiqueta" => "<span class="elsevierStyleSup">c</span>"
            "identificador" => "affc"
          ]
          3 => array:3 [
            "entidad" => " Toxicology Research Center, Jondishapour University of Medical Sciences, Ahvaz,  Iran, "
            "etiqueta" => "<span class="elsevierStyleSup">d</span>"
            "identificador" => "affd"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "en" => array:1 [
        "titulo" => "The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran"
      ]
    ]
    "pdfFichero" => "P1-E550-S4065-A11558.pdf"
    "tienePdf" => true
    "PalabrasClave" => array:2 [
      "en" => array:5 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec430207"
          "palabras" => array:1 [
            0 => "Molecular characterization"
          ]
        ]
        1 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec430209"
          "palabras" => array:1 [
            0 => "Nephropatic cystinosis"
          ]
        ]
        2 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec430211"
          "palabras" => array:1 [
            0 => "CTNS gene"
          ]
        ]
        3 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec430213"
          "palabras" => array:1 [
            0 => "Iranian"
          ]
        ]
        4 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec430215"
          "palabras" => array:1 [
            0 => "Novel mutation"
          ]
        ]
      ]
      "es" => array:5 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec430208"
          "palabras" => array:1 [
            0 => "Cistinosis nefrop&#225;tica"
          ]
        ]
        1 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec430210"
          "palabras" => array:1 [
            0 => "Gen CTNS"
          ]
        ]
        2 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec430212"
          "palabras" => array:1 [
            0 => "Paciente iran&#237;"
          ]
        ]
        3 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec430214"
          "palabras" => array:1 [
            0 => "Mutaci&#243;n no descrita"
          ]
        ]
        4 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec430216"
          "palabras" => array:1 [
            0 => "Determinaci&#243;n molecular"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "es" => array:1 [
        "resumen" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Objetivos&#58;</span> La cistinosis nefrop&#225;tica &#40;CN&#41; es una rara enfermedad metab&#243;lica que se debe a la mutaci&#243;n del gen <span class="elsevierStyleItalic">CNTS</span>&#44; para que el que ya se han registrado m&#225;s de 90 mutaciones diferentes&#46; El estudio se realiz&#243; para investigar las mutaciones del gen <span class="elsevierStyleItalic">CTNS </span>y su promotor en un determinado n&#250;mero de pacientes iran&#237;es con CN&#46;<span class="elsevierStyleBold"> M&#233;todos&#58;</span> Para la determinaci&#243;n molecular del gen <span class="elsevierStyleItalic">CTNS </span>en 25 pacientes con CN procedentes de 24 familias iran&#237;es no emparentadas&#44; se han llevado a cabo an&#225;lisis con reacci&#243;n en cadena de la polimerasa y con secuenciaci&#243;n directa&#46;<span class="elsevierStyleBold"> Resultados&#58;</span> Ninguno de los pacientes mostr&#243; deleci&#243;n de 57-kb ni heterocig&#243;cita ni homocig&#243;tica&#46; Uno result&#243; homocigoto para una mutaci&#243;n no descrita que se denomin&#243; &#171;c&#46;153-155insCT&#187;&#44; mientras que otro de los casos result&#243; homocigoto y otro heterocigoto compuesto para una segunda mutaci&#243;n no descrita&#44; c&#46;923G&#62;A&#46; Adem&#225;s&#44; se detectaron otras tres mutaciones conocidas c&#46;18&#8211;21delGACT&#44; c&#46;1017G<span class="elsevierStyleBold">&#62;</span>A y c&#46;681G&#62;A en 11 pacientes&#46; En el resto de los pacientes &#40;44 &#37;&#44; n &#61; 11&#41; no se observaron mutaciones aparentes&#46;<span class="elsevierStyleBold"> Conclusi&#243;n&#58;</span> Los datos de este estudio muestran un fundamento para la detecci&#243;n de transportadores moleculares y el diagn&#243;stico prenatal de un porcentaje relativamente elevado de pacientes iran&#237;es que sufren CN&#44; al menos en el sudoeste de Ir&#225;n&#44; donde la etnia &#225;rabe es una de las comunes en la regi&#243;n&#46;</p>"
      ]
      "en" => array:1 [
        "resumen" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Objective&#58;</span>&#160;Nephropatic Cystinosis &#40;NC&#41; is a rare metabolic disorder due to mutation in the<span class="elsevierStyleItalic"><span class="elsevierStyleItalic">&#160;</span></span><span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic">&#160;</span>gene in which more than 90 different mutations have already been reported so far&#46; This study was performed to investigate mutations of the&#160;<span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic">&#160;</span>gene and its promoter in a number of Iranian patients with NC&#46; <span class="elsevierStyleBold">Methods&#58;</span>&#160;Polymerase chain reaction and direct sequencing were performed for molecular characterization of the&#160;<span class="elsevierStyleItalic">CTNS</span><span class="elsevierStyleItalic">&#160;</span>gene in 25 patients from 24 unrelated Iranian families with NC&#46; <span class="elsevierStyleBold">Results&#58;</span>&#160;None of the patients showed the 57kb deletion in heterozygous or homozygous manner&#46; One was homozygous for a novel mutation&#44; which was termed as &#8216;c&#46;153-155insCT&#8217;&#44; while one of the cases was homozygous and another was compound heterozygous for the second novel mutation c&#46;923G&#62;A&#46; Moreover three known mutations c&#46;18&#8211;21delGACT&#44; c&#46;1017G<span class="elsevierStyleBold">&#62;</span>A&#44; and c&#46;681G&#62;A in 11 of the patients were detected&#46; No apparent mutation was observed in the rest of patients &#40;44&#37;&#44; n&#61;11&#41;&#46; <span class="elsevierStyleBold">Conclusion&#58;</span>&#160;The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC&#44; at least in the Southwestern Iran&#44; where Arab ethnicity is one of the common ethnicities of the region&#46;</p> <p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p>"
      ]
    ]
  ]
  "idiomaDefecto" => "es"
  "url" => "/02116995/0000003300000003/v0_201502091323/X0211699513003255/v0_201502091323/es/main.assets"
  "Apartado" => array:4 [
    "identificador" => "35393"
    "tipo" => "SECCION"
    "es" => array:2 [
      "titulo" => "Artículos Originales"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "es"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/02116995/0000003300000003/v0_201502091323/X0211699513003255/v0_201502091323/es/P1-E550-S4065-A11558.pdf?idApp=UINPBA000064&text.app=https://revistanefrologia.com/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X0211699513003255?idApp=UINPBA000064"
]
Compartir
Información de la revista
Vol. 33. Núm. 3.mayo 2013
Páginas 0-735
Vol. 33. Núm. 3.mayo 2013
Páginas 0-735
Acceso a texto completo
Primer análisis genético molecular en personas que padecen cistinosis nefropática en el sudoeste de Irán
The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran
Visitas
10342
Sepideh Shahkaramia, sepideh shahkaramia, Hamid Galehdarib, hamid Galehdaric, Ali Ahmadzadeha, ali ahmadzadeha, Mahnaz Babaahmadid, Mahnaz Babaahmadid, Mohammad Pedrama, Mohammad Pedrama
a Research Center for Thalassemia and Hemoglobinopathy, Jondishapour University of Medical Sciences, Ahvaz, Iran,
b Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran,
c Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, ahvaz, Iran,
d Toxicology Research Center, Jondishapour University of Medical Sciences, Ahvaz, Iran,
Este artículo ha recibido
Información del artículo

Objetivos: La cistinosis nefropática (CN) es una rara enfermedad metabólica que se debe a la mutación del gen CNTS, para que el que ya se han registrado más de 90 mutaciones diferentes. El estudio se realizó para investigar las mutaciones del gen CTNS y su promotor en un determinado número de pacientes iraníes con CN. Métodos: Para la determinación molecular del gen CTNS en 25 pacientes con CN procedentes de 24 familias iraníes no emparentadas, se han llevado a cabo análisis con reacción en cadena de la polimerasa y con secuenciación directa. Resultados: Ninguno de los pacientes mostró deleción de 57-kb ni heterocigócita ni homocigótica. Uno resultó homocigoto para una mutación no descrita que se denominó «c.153-155insCT», mientras que otro de los casos resultó homocigoto y otro heterocigoto compuesto para una segunda mutación no descrita, c.923G>A. Además, se detectaron otras tres mutaciones conocidas c.18–21delGACT, c.1017G>A y c.681G>A en 11 pacientes. En el resto de los pacientes (44 %, n = 11) no se observaron mutaciones aparentes. Conclusión: Los datos de este estudio muestran un fundamento para la detección de transportadores moleculares y el diagnóstico prenatal de un porcentaje relativamente elevado de pacientes iraníes que sufren CN, al menos en el sudoeste de Irán, donde la etnia árabe es una de las comunes en la región.

Palabras clave:
Cistinosis nefropática
Palabras clave:
Gen CTNS
Palabras clave:
Paciente iraní
Palabras clave:
Mutación no descrita
Palabras clave:
Determinación molecular

Objective: Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC. Methods: Polymerase chain reaction and direct sequencing were performed for molecular characterization of the CTNS gene in 25 patients from 24 unrelated Iranian families with NC. Results: None of the patients showed the 57kb deletion in heterozygous or homozygous manner. One was homozygous for a novel mutation, which was termed as ‘c.153-155insCT’, while one of the cases was homozygous and another was compound heterozygous for the second novel mutation c.923G>A. Moreover three known mutations c.18–21delGACT, c.1017G>A, and c.681G>A in 11 of the patients were detected. No apparent mutation was observed in the rest of patients (44%, n=11). Conclusion: The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC, at least in the Southwestern Iran, where Arab ethnicity is one of the common ethnicities of the region.

 

Keywords:
Molecular characterization
Keywords:
Nephropatic cystinosis
Keywords:
CTNS gene
Keywords:
Iranian
Keywords:
Novel mutation
El Texto completo está disponible en PDF
Descargar PDF
Idiomas
Nefrología
Opciones de artículo
Herramientas
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?