Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study;Hiperferritinemia, ferropenia y síndrome metabólico en un paciente con una nueva mutación en el gen TFR2 y otra en el gen FTL. Estudio familiar

Medicina Clinica

Volumn 137, Issue 2, 2011, Pages 68-72

  Del Castillo Rueda, Alejandro ^a   Moreno Carralero, María Isabel ^b   Cuadrado Grande, Nuria ^b   Méndez, Manuel ^b   Morán Jiménez, María Josefa ^b  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Ferritin light chain; Hereditary hemochromatosis; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia; Metabolic syndrome; Transferrin receptor 2

Indexed keywords

TRANSFERRIN;

ARTICLE; CATARACT; FAMILY STUDY; FTL GENE; GENE; GENE MUTATION; GENOTYPE; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HUMAN; HYPERFERRITINEMIA; METABOLIC SYNDROME X; PHENOTYPE; TFR 2 GENE;

ADULT; ALGORITHMS; APOFERRITINS; CATARACT; FEMALE; HUMANS; IRON; IRON METABOLISM DISORDERS; MALE; METABOLIC SYNDROME X; MUTATION; PEDIGREE; RECEPTORS, TRANSFERRIN;

EID: 79958060912     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2011.02.023     Document Type: Article

References (20)

1. P. Aguilar-Martínez, J.F. Schved, and P. Brissot The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities Am J Gastroenterol. 100 2005 1185 1194 (Pubitemid 40769060)
2. A. Altés-Hernández Sobrecarga férrica. Algo más que hemocromatosis hereditaria Med Clin (Barc). 120 2003 704 706 (Pubitemid 36798873)
3. J.M. Ladero Hiperferritinemia hereditaria y sobrecarga férrica: no son sinónimos Med Clin (Barc). 127 2006 53 54 (Pubitemid 44086027)
4. P.C. Adams, and M.D. Beaton Transferrin saturation as a predictor of hepatic iron overload Liver Int. 31 2011 272 273
5. G. Millonig, M.U. Muckenthaler, and S. Mueller Hyperferritinaemia- cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder Hum Genomics. 4 2010 250 262
6. P. Aguilar-Martínez Surcharges en fer héréditaires non liées au gne HFE Presse Med. 36 2007 1279 1291 (Pubitemid 47332165)
7. C. Camaschella, A. Roetto, A. Cali, M. de Gobbi, G. Garozzo, and M. Carella The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 Nat Genet. 25 2000 14 15 (Pubitemid 30257027)
8. G. Biasiotto, C. Camaschella, G.L. Forni, A. Polotti, G. Zecchina, and P. Arosio New TFR2 mutations in young Italian patients with hemochromatosis Haematologica. 93 2008 309 310 (Pubitemid 351397724)
9. M. Ruivard, F. Lainé, T. Ganz, G. Olbina, M. Westerman, and E. Nemeth Iron absorption in dysmetabolic iron overload syndrome is decreased and correlates with increased plasma hepcidin J Hepatol. 50 2009 1219 1225
10. A. Del Castillo Rueda Protocolo diagnóstico de las ferritinemias elevadas Medicine. 10 2008 1299 1301
11. C. Camaschella, and E. Poggiali Towards explaining "unexplained hyperferritinemia" Haematologica. 94 2009 307 309
12. J. Álvarez-Coca-González, M.I. Moreno-Carralero, J. Martínez-Pérez, M. Méndez, M. García-Ros, and M.J. Morán-Jiménez The hereditary hyperferritinemia-cataract syndrome: a family study Eur J Pediatr. 169 2010 1553 1555
13. A. Del Castillo-Rueda, and M.L. Fernández-Ruano Síndrome hereditario de hiperferritinemia y cataratas en una familia española con la mutación A40G (París) en el gen de la L-ferritina (FTL) asociada a la mutación H63D en el gen HFE Med Clin (Barc). 129 2007 414 417
14. P.C. Adams, and J.C. Barton How I treat hemochromatosis Blood. 116 2010 317 325
15. A. Pietrangelo Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment Gastroenterology. 139 2010 393 408
16. J. Gao, J. Chen, M. Kramer, H. Tsukamoto, A.S. Zhang, and C.A. Enns Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression Cell Metab. 9 2009 217 227
17. A. Pietrangelo, A. Caleffi, J. Henrion, F. Ferrara, E. Corradini, and H. Kulaksiz Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes Gastroenterology. 128 2005 470 479 (Pubitemid 40431098)
18. L.Y. Chen, S.D. Chang, G.M. Sreenivasan, P.W. Tsang, R.C. Broady, and C.H. Li Dysmetabolic hyperferritinemia is associated with normal transferrin saturation, mild hepatic iron overload, and elevated hepcidin Ann Hematol. 90 2011 139 143
19. European association for the study of the liver EASL clinical practice guidelines for HFE hemochromatosis J Hepatol. 53 2010 3 22
20. M. Muñoz, F. Botella-Romero, S. Gómez-Ramírez, A. Campos, and A. García-Erce Iron deficiency and anaemia in bariatric surgical patientes: causes, diagnosis and proper management Nutr Hosp. 24 2009 640 654