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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)
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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
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Copyright © 2000. Asociación Española de Pediatría
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