Revisión clínica

← vista completa

Publicado el 1 de febrero de 2010 | http://doi.org/10.5867/medwave.2010.02.4415

Diabetes tipo MODY: la diabetes del adulto en la etapa infanto-juvenil

MODY diabetes: adult-onset type diabetes in the young

Adela-Emilia Gómez Ayala

Esta obra de Medwave está bajo una licencia Creative Commons Atribución-NoComercial 3.0 Unported. Esta licencia permite el uso, distribución y reproducción del artículo en cualquier medio, siempre y cuando se otorgue el crédito correspondiente al autor del artículo y al medio en que se publica, en este caso, Medwave.

Autores

Adela-Emilia Gómez Ayala

Universidad de Granada, España

Figures

Article has no figures.

Foro

No hay mensajes

Historial

Citación Gómez Ayala AE. MODY diabetes: adult-onset type diabetes in the young. Medwave 2010;10(2):e4415 doi: 10.5867/medwave.2010.02.4415

Envío 01/01/1970

Aceptación 01/01/1970

Publicación 01/02/2010

Métricas

Vistas en HTML

150

Descargas en PDF

15

Total

165

% Descargas en PDF

10%

Ver detalle

Notas

Keywords

diabetes, MODY

Provenance and peer review

sin revisión por pares

Referencias

  1. Ferrer J. Diabetes autosómica dominante y defectos genéticos de reguladores transcripcionales. Cardiovascular Risk Factor 2004;13(4):209-18.
  2. Rial Rodríguez JM. Diabetes mellitus tipo 2 en la infancia y adolescencia. BSCP Can Ped 2006;30(13):21-24.
  3. Gahagan S, Silverstein J; American Academy of Pediatrics Committee on Native American Child Health; American Academy of Pediatrics Section on Endocrinology. Prevention and treatment of type 2 diabetes mellitus in children, with special emphasis on American Indian and Alaska Native children. American Academy of Pediatrics Committee on Native American Child Health. Pediatrics. 2003 Oct;112(4):e328. | CrossRef | PubMed
  4. Velho G, Beilanne-Chantelot C, Timsit J. Heterogeneidad de MODY y conducta clínica. ¿Diferentes genes como guía de distintos enfoques? Endocrinol Nutr 2004;51(Supl. 2):22-30.
  5. Ledermann HM. Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?. Lancet. 1995 Mar 11;345(8950):648. | CrossRef | PubMed
  6. FAJANS SS, CONN JW. Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus. Diabetes. 1960 Mar-Apr;9:83-8. | PubMed
  7. Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med. 1974 Apr;43(170):339-57. | PubMed
  8. Calzada R. MODY, otra forma de diabetes. Medwave 2006;VI(7).
  9. Velho G, Blanché H, Vaxillaire M, Bellanné-Chantelot C, Pardini VC, Timsit J, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997 Feb;40(2):217-24. | CrossRef | PubMed
  10. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature. 1996 Dec 5;384(6608):458-60. | CrossRef | PubMed
  11. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 5;384(6608):455-8. | CrossRef | PubMed
  12. Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 1997 Oct;17(2):138-9 | CrossRef | PubMed
  13. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997 Dec;17(4):384-5. | CrossRef | PubMed
  14. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet. 1999 Nov;23(3):323-8. | CrossRef | PubMed
  15. Chèvre JC, Hani EH, Boutin P, Vaxillaire M, Blanché H, Vionnet N, et al. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia. 1998 Sep;41(9):1017-23. | CrossRef | PubMed
  16. Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, Benmezroua Y, et al. A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes. 2003 Mar;52(3):872-81. | CrossRef | PubMed
  17. Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, et al. Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997 Apr;46(4):720-5. | CrossRef | PubMed
  18. Lindner TH, Cockburn BN, Bell GI. Molecular genetics of MODY in Germany. Diabetologia. 1999 Jan;42(1):121-3. | CrossRef | PubMed
  19. Wang H, Maechler P, Antinozzi PA, Hagenfeldt KA, Wollheim CB. Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta -cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. J Biol Chem. 2000 Nov 17;275(46):35953-9. | CrossRef | PubMed
  20. Sánchez-Reyes L, Fanghänel G, Márquez-Cid ME, Salazar RR, Labastida-Sánchez C, Solís-Pérez A, et al. Actualización en los diferentes subtipos de diabetes tipo “MODY”. Rev Endocrinol Nutr 2001; 9 (1): 5-11.
  21. Lindner T, Gragnoli C, Furuta H, Cockburn BN, Petzold C, Rietzsch H, et al. Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest. 1997 Sep 15;100(6):1400-5. | CrossRef | PubMed
  22. Shih DQ, Dansky HM, Fleisher M, Assmann G, Fajans SS, Stoffel M. Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels. Diabetes. 2000 May;49(5):832-7. | CrossRef | PubMed
  23. Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol. 1998 Mar;138(3):233-9. | CrossRef | PubMed
  24. Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol. 1998 Mar;138(3):233-9. | CrossRef | PubMed
  25. Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13209-14. | CrossRef | PubMed
  26. Wang H, Maechler P, Hagenfeldt KA, Wollheim CB. Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line. EMBO J. 1998 Nov 16;17(22):6701-13. | CrossRef | PubMed
  27. Yamagata K, Yang Q, Yamamoto K, Iwahashi H, Miyagawa J, Okita K, et al. Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative. Diabetes. 1998 Aug;47(8):1231-5. | CrossRef | PubMed
  28. Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest. 1998 May 15;101(10):2215-22. | CrossRef | PubMed
  29. Dukes ID, Sreenan S, Roe MW, Levisetti M, Zhou YP, Ostrega D, et al. Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice. J Biol Chem. 1998 Sep 18;273(38):24457-64. | CrossRef | PubMed
  30. Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 2000 Jul;17(7):543-5. | CrossRef | PubMed
  31. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997 Jan;15(1):106-10. | CrossRef | PubMed
  32. Hani EH, Stoffers DA, Chèvre JC, Durand E, Stanojevic V, Dina C, et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest. 1999 Nov;104(9):R41-8. | CrossRef | PubMed
  33. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, et al. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes. 1998 Aug;47(8):1354-5. | CrossRef | PubMed
  34. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, et al. Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000 Mar;57(3):898-907. | CrossRef | PubMed
  35. Doria A, Plengvidya N. Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes. Curr Opin Endo Diab 2000;7:203.
  36. Boj SF, Parrizas M, Maestro MA, Ferrer J. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci U S A. 2001 Dec 4;98(25):14481-6. Epub 2001 Nov 20. | CrossRef | PubMed
  37. Soria B. In-vitro differentiation of pancreatic beta-cells. Differentiation. 2001 Oct;68(4-5):205-19. | CrossRef | PubMed
  38. Maestro MA, Boj SF, Luco RF, Pierreux CE, Cabedo J, Servitja JM, et al. Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Hum Mol Genet. 2003 Dec 15;12(24):3307-14. Epub 2003 Oct 21. | CrossRef | PubMed
  39. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, et al. HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4614-9. Epub 2002 Mar 19. | CrossRef | PubMed