Información de la revista
Vol. 52. Núm. 3.
Páginas 267-270 (marzo 2000)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
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
Visitas
11176
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
Este artículo ha recibido
Información del artículo

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.

El Texto completo está disponible en PDF
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
Copyright © 2000. Asociación Española de Pediatría
Descargar PDF
Idiomas
Anales de Pediatría
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?