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                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9292547"
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                ]
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                      "titulo" => "A point mutation in the bulge of the iron-responsive element of the L-ferritin gene in two families with the hereditary hyperferri-tinemia-cataract syndrome"
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                          "etal" => false
                          "autores" => array:5 [
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                            2 => "P&#46; Brissot"
                            3 => "B&#46; Pellat"
                            4 => "C&#46; Beaumont"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
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                        "tituloSerie" => "Blood"
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                        "paginaInicial" => "319"
                        "paginaFinal" => "323"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9414300"
                            "web" => "Medline"
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              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hereditary hyperferriti-nemia-cataract syndrome&#58; two novel mutations in the L-ferritin iron-responsive element"
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                          "etal" => false
                          "autores" => array:3 [
                            0 => "A&#46;D&#46; Munford"
                            1 => "T&#46; Vulliamy"
                            2 => "J&#46; Lindsay"
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                      ]
                    ]
                  ]
                  "host" => array:1 [
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                        "paginaInicial" => "367"
                        "paginaFinal" => "368"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9414313"
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                      "titulo" => "Description of a new mutation in the L-ferritin iron-responsi-ve element associated with hereditary hyperferritinemia-cataract syndrome in a spanish family"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
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                            1 => "M&#46;J&#46; Avil&#233;s"
                            2 => "F&#46; Garc&#237;a-S&#225;nchez"
                            3 => "J&#46;L&#46; Vicario"
                            4 => "A&#46; Cervera"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
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                        "paginaInicial" => "4020"
                        "paginaFinal" => "4021"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10383191"
                            "web" => "Medline"
                          ]
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                ]
              ]
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            10 => array:3 [
              "identificador" => "bib0055"
              "etiqueta" => "11&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Function and regulation of transferrin and ferritin"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "P&#46; Ponka"
                            1 => "C&#46; Beaumont"
                            2 => "D&#46;R&#46; Richardson"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Semin Hematol"
                        "fecha" => "1998"
                        "volumen" => "35"
                        "paginaInicial" => "35"
                        "paginaFinal" => "54"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9460808"
                            "web" => "Medline"
                          ]
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                  ]
                ]
              ]
            ]
            11 => array:3 [
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              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hemochromatosis and iron metabolism"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "T&#46;A&#46; Rouault"
                            1 => "M&#46;A&#46; Hediger"
                            2 => "N&#46;C&#46; Andrews"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Gastroenterology"
                        "fecha" => "1999"
                        "volumen" => "116"
                        "paginaInicial" => "194"
                        "paginaFinal" => "195"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0065"
              "etiqueta" => "13&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Thyroid hormo-ne modulates the interaction between iron regulatory pro-teins and the ferritin mRNA iron responsive element"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "P&#46;J&#46; Leedman"
                            1 => "A&#46;R&#46; Stein"
                            2 => "W&#46;W&#46; Chin"
                            3 => "J&#46;T&#46; Rogers"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Biol Chem"
                        "fecha" => "1996"
                        "volumen" => "12"
                        "paginaInicial" => "12017"
                        "paginaFinal" => "12023"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0070"
              "etiqueta" => "14&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hipertiroidismo&#44; otra causa de hiperferritinemia"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "M&#46; Rozman"
                            1 => "J&#46;L&#46; Vives Corrons"
                            2 => "C&#46; Rozman"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "Med Clin &#40;Barc&#41;"
                        "fecha" => "1992"
                        "volumen" => "99"
                        "paginaInicial" => "273"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0075"
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              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Secondary iron overload disorders"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "S&#46;S&#46; Bottomley"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Semin He-matol"
                        "fecha" => "1998"
                        "volumen" => "35"
                        "paginaInicial" => "77"
                        "paginaFinal" => "86"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0080"
              "etiqueta" => "16&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Screening for hemochromatosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "C&#46;Q&#46; Edwards"
                            1 => "J&#46;P&#46; Kushner"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1056/NEJM199306033282208"
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                        "tituloSerie" => "N Engl J Med"
                        "fecha" => "1993"
                        "volumen" => "328"
                        "paginaInicial" => "1616"
                        "paginaFinal" => "1620"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8110209"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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                      "titulo" => "Analysis of ferritins in lymphoblastoid cell lines and the lens of subjects with hereditary hyperferritinemia-cataract syndrome"
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                          "etal" => false
                          "autores" => array:6 [
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                            1 => "D&#46; Girelli"
                            2 => "F&#46; Perrone"
                            3 => "M&#46; Pasti"
                            4 => "C&#46; Beaumont"
                            5 => "R&#46; Corrocher"
                          ]
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                      ]
                    ]
                  ]
                  "host" => array:1 [
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Vol. 52. Núm. 3.
Páginas 267-270 (marzo 2000)
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Vol. 52. Núm. 3.
Páginas 267-270 (marzo 2000)
Acceso a texto completo
Hiperferritinemia aislada en un lactante sano: síndrome hereditario de hiperferritinemia y cataratas
Isolated hyperferritinemia In a healthy male infant: hereditary Hyperferritinemia-cataract syndrome
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A. Cervera Bravoa,*, M. Sebastián Planasa, A. Alarabe Alarabea, A. Díez Sáenza, M.J. Avilés Egeab, A. Balas Pérezb
a Servicio de Pediatría. Hospital de Móstoles. Madrid
b Laboratorio de Histocompatibilidad y Biología Molecular. Centro Regional de Transfusión. Madrid
Contenido relacionado
An Pediatr (Barc). 2000;52:56810.1016/S1695-4033(00)77402-9
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Se describe el caso de un lactante varón con hallazgo casual de hiperferritinemia a los 3 meses, a través del cual se llegó al diagnóstico en varios familiares de 3 generaciones de síndrome hereditario de hiperferritinemia y cataratas, con una nueva mutación puntual en el IRE del gende la L-ferritina. Se comenta el diagnóstico diferencial de las hiperferritinemias, haciendo hincapié en el conocimiento de esta entidad para evitar exploraciones innecesarias.

Palabras clave:
Hiperferritinemia
Cataratas congénitas
Metabolismo del hierro

The case of a male infant who was found to have hyperferritinemia was made at the age of 3 months is described. The patient and several members of his family from three generations were diagnosed with hereditary hyperferritinemia-cataract syndrome with a new point mutation in the iron-responsive element of the L-ferritin gene. Differential diagnosis of hyperferritinemia is discussed with emphasis on the need for the knowledge of this entity to avoid unnecessary investigations.

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Bibliografía
[1.]
D. Girelli, O. Olivieri, L. De Franceschi, R. Corrocher, G. Berga-maschi, M. Cazzola.
A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract.
Br J Haematol, 90 (1995), pp. 931-934
[2.]
D. Bonneau, I. Winter-Fuseau, M.N. Loiseau, P. Amati, M. Berthier, D. Oriot.
Bilateral cataract and high serum ferritin: a new dominant genetic disorderα.
J Med Genet, 32 (1995), pp. 778-779
[3.]
D. Girelli, R. Corrocher, L. Bisceglia, O. Olivieri, L. De Franceschi, L. Zelante.
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the“Verona mutation”).
Blood, 86 (1995), pp. 4050-4053
[4.]
C. Beaumont, P. Lenevue, I. Devaux.
Mutation in the iron responsive element of L ferritin mRNA in a family with do-minant hyperferritinemia and cataract.
Nat Genet, 11 (1995), pp. 444-446
[5.]
P. Aguilar-Martínez, C. Biron, C. Masmejean, P. Jeanjean, J.F. Schved.
A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
Blood, 88 (1996), pp. 1895-1896
[6.]
M. Cazzola, G. Bergamaschi, L. Tonon, E. Arbustini, M. Grasso, E. Vercesi.
Hereditary hyperferritinemia-cataract syndrome: relation between phenotypes and specific mutations in the iron- responsive element of ferritin light-chain mRNA.
Blood, 90 (1997), pp. 814-821
[7.]
D. Girelli, R. Corrocher, L. Bisceglia, O. Olivieri, L. Zelante, G. Pa-nozzo.
Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron-responsive element of ferritin L-subunit gene.
Blood, 90 (1997), pp. 2084-2088
[8.]
M.E. Martin, S. Fargion, P. Brissot, B. Pellat, C. Beaumont.
A point mutation in the bulge of the iron-responsive element of the L-ferritin gene in two families with the hereditary hyperferri-tinemia-cataract syndrome.
Blood, 91 (1998), pp. 319-323
[9.]
A.D. Munford, T. Vulliamy, J. Lindsay.
Hereditary hyperferriti-nemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.
Blood, 91 (1998), pp. 367-368
[10.]
A. Balas, M.J. Avilés, F. García-Sánchez, J.L. Vicario, A. Cervera.
Description of a new mutation in the L-ferritin iron-responsi-ve element associated with hereditary hyperferritinemia-cataract syndrome in a spanish family.
Blood, 93 (1999), pp. 4020-4021
[11.]
P. Ponka, C. Beaumont, D.R. Richardson.
Function and regulation of transferrin and ferritin.
Semin Hematol, 35 (1998), pp. 35-54
[12.]
T.A. Rouault, M.A. Hediger, N.C. Andrews.
Hemochromatosis and iron metabolism.
Gastroenterology, 116 (1999), pp. 194-195
[13.]
P.J. Leedman, A.R. Stein, W.W. Chin, J.T. Rogers.
Thyroid hormo-ne modulates the interaction between iron regulatory pro-teins and the ferritin mRNA iron responsive element.
J Biol Chem, 12 (1996), pp. 12017-12023
[14.]
M. Rozman, J.L. Vives Corrons, C. Rozman.
Hipertiroidismo, otra causa de hiperferritinemia.
Med Clin (Barc), 99 (1992), pp. 273
[15.]
S.S. Bottomley.
Secondary iron overload disorders.
Semin He-matol, 35 (1998), pp. 77-86
[16.]
C.Q. Edwards, J.P. Kushner.
Screening for hemochromatosis.
N Engl J Med, 328 (1993), pp. 1616-1620
[17.]
S. Levi, D. Girelli, F. Perrone, M. Pasti, C. Beaumont, R. Corrocher.
Analysis of ferritins in lymphoblastoid cell lines and the lens of subjects with hereditary hyperferritinemia-cataract syndrome.
Blood, 91 (1998), pp. 4180-4187
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