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2012, Número 2

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Rev Cuba Endoc 2012; 23 (2)


Aspectos más recientes en relación con la diabetes mellitus tipo MODY

Conesa GAI, González CTM

Idioma: Español
Referencias bibliográficas: 53
Paginas: 186-194
Archivo PDF: 77.27 Kb.


RESUMEN

Antecedentes: la mejor comprensión fisiopatológica de la diabetes mellitus permite identificar diferentes tipos, entre ellos una variante monogénica denominada por sus siglas en inglés MODY (Maturity-Onset Diabetes of the Young).
Objetivos: describir los aspectos fisiopatológicos, clínicos, diagnósticos y terapéuticos de los diferentes subtipos MODY.
Desarrollo: los pacientes con diabetes tipo MODY presentan un comportamiento similar a la diabetes mellitus del adulto. Se caracteriza por una alteración genética autosómica dominante inherente y primaria a un defecto en la secreción de insulina. Hasta el momento actual se aceptan 9 subtipos de MODY. Los subtipos 1, 3, 4, 5 y 6 afectan a genes que codifican a factores nucleares de trascripción, y el subtipo 2 al gen que codifica a la enzima glucoquinasa. Se caracterizan clínicamente por cuadros que oscilan entre hiperglucemias permanentes, leves o moderadas, con buen pronóstico clínico, y pocas complicaciones, hasta cuadros de hiperglucemias mantenidas acompañadas de complicaciones crónicas precoces y graves.
Conclusiones: las personas que padecen diabetes tipo MODY no son tan infrecuentes como se piensa. La correcta y temprana identificación de la enfermedad permitirá una acción terapéutica más racional y adecuada para brindar la posibilidad de mejor calidad de vida de estas personas.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care. 2000;23(Suppl 1):4-19.

  2. Tattersal RB. Mild familial diabetes with dominant inheritance. Quarterly Journal of Medicine. 1974;43:339-57.

  3. Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes. 1975;24:44-8.

  4. Bellanne-Chantelot C, Dubois-Laforgue D, Velho G. Diagnosis and management of maturity-onset diabetes of the young. Timsit Treat Endocrinol. 2005;4(1):9-18.

  5. Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, et al. Beta Cell Genes and Diabetes; Molecular and Clinical Characterization of Mutations in Transcription Factors. Diabetes. 2001;50(Suppl 1):S94-100.

  6. 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;7:203-7.

  7. Florez JC, Hirschhorn J, Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet. 2003;4:257-91.

  8. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345:971-80.

  9. Giuffrida FM, Reis AF. Genetic and clinical characteristics of maturity-onset diabetes of the young. Diabetes Obes Metab. 2005;7:318-26.

  10. Rubio Cabezas O. Diabetes mellitus monogénica. An Pediatr (Barc). 2008;68(Supl 1):73-7.

  11. Velho G, Robert JJ. Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics. Horm Res. 2002;57(Suppl 1):29-33.

  12. Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K, International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr Diab. 2006;7:352-60. Erratum in: Pediatr Diab. 2007;8:49-52.

  13. Nakhla M, Polychronakos C. Monogenic and other unusual causes of diabetes mellitus. Pediatr Clin North Am. 2005;52:1637-50.

  14. Sánchez-Reyes L, Fanghanel G, Márquez-Cid ME, Salazar Rocha R, Labastida-Sánchez C, Solís-Pérez A. Actualización en los diferentes subtipos de diabetes tipo MODY. Rev Endocrinol Nutr. 2001;9:5-11.

  15. 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-4 alpha/ MODY1 gene. J Clin Invest. 1997;100:1400-5.

  16. Shih DQ, Dansky HM, Flaisher 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;49:832-7.

  17. Wang H, Maechler P, Antinozzi PA, Kerstin A, Hagenfeldt KA, Wollheim CB. Hepatocyte Nuclear Factor 4 Regulates the Expression of Pancreatic-Cell Genes Implicated in Glucose Metabolism and Nutrient-induced Insulin Secretion. J Biol Chem. 2000;275:53-9.

  18. Bogan AA, Dallas-Yang Q, Ruse MD, Maeda Y, Jiang G, Nepomuceno L, et al. Analysis of protein dimerization and ligand binding of orphan receptor HNF-4alpha. J Mol Biol. 2000;302:831-51.

  19. Lorna W, Harries J, Locke B, Neil A, Hanley K, Steele A, et al. The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4alpha Isoforms From the P1 Promoter During Fetal Development. Diabetes. 2008;57:1745-52.

  20. Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, et al. Naturally occurring mutations in the human HNF-4a gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res. 2000;28:430-7.

  21. Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol. 1998;138:233-8.

  22. ISPAD. Consensus guidelines for the manegement of type 1 diabetes mellitus in children and adolescents. Zeist, Netherlands: Medical Forum international; 2000.

  23. Froguel P, Vaxillaire M. Close linkage of glucokinase locus on chromosome 7p to early-oset non-insulin-dependent diabetes mellitus. Nature. 1992;356:162-4.

  24. 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.

  25. Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003;21:577-81.

  26. Gloyn AL. Glucokinase (GCK) mutations in hyper and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. 2003;22:353-62.

  27. Timsit J, Bellanne-Chantelot C, Dubois-Laforgue D, Velho G. Diagnosis and management of maturity-onset diabetes of the young Treat Endocrinol. 2005;4(1):9-18.

  28. Cuesta AL. Diabetes monogénica. En: Gomis R, Rovira A, Felíu JE, Oyarzábal M (eds.). Tratado SED de Diabetes Mellitus. Bases moleculares clínicas y Tratamiento. Madrid: Ed. Panamericana; 2007. p. 47-56.

  29. Pearson ER, Liddel WG, Shephar M, Corral R, Hattersley AT. Sensitivity to sulphonilureas in patients with hepatocyte nuclear factor-1a gene mutation: evidence for pharmacokinetics in diabetes. Diabet Med. 2000;17:543-45.

  30. Marcondes Lerario A, Pinto Brito L, Marinho Mariani B, Candida Fragoso M, Cesar Machado MA, Teixeira R. A missense TCF1 mutation in a patient with MODY-3 and liver adenomatosis. Journal List Clinics (Sao Paulo) [serie en Internet]. 2010 [citado 26 de noviembre de 2011];65(10). Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2972616/

  31. Tomasz Klupa. Determinants of the Development of Diabetes (Maturity-Onset Diabetes of the Young-3) in Carriers of HNF-1 (alpha) Mutations Evidence for parent-of-origin effect. Diabetes Care. 2002;25:2292-301.

  32. Katharine R. Owen. Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations. Diabetes Care. September 2010;33(9):1919-24.

  33. Stoffers DA, Ferre J, Clarke WI, Habaner JF. Early-onset type II diabetes mellitus (MODY) linked to IPF1. Nat Genet. 1997;15:106-10.

  34. Giuffrida FM, Reis AF. Genetic and clinical charactericts of maturity-onset diabetes of the young. Diab Obes Metab. 2005;7:318-26.

  35. Stoffers DA, Zinkin NT, Stanojevic V. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997;15:106.

  36. Stoffers DA, Ferrer J, Clarke WL. Early-onset type II diabetes mellitus (MODY 4) linked to IPF1. Nat Genet. 1997;17:138-40.

  37. Horikawa Y, Iwasaki N, Hara M. Mutation in hepatocyte nuclear factor-1 (beta) gene (TCF2) associated with MODY. Nat Genet. 1997:17:384-5.

  38. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Honikawa Y. Frameshift mutation, A263fsinsGG, in hepatocyte nuclear factor-1 beta gene associated with diabetes and renal dysfunction. Diabetes. 1998;47:1354-55.

  39. Iwasaki N, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Yano N, et al. Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care. 1998;21:2144-8.

  40. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Get. 1999:323-6.

  41. MODY (Report) [homepage en Internet]. Case report. Retrieved Jan 25; 2010 [citado 26 de noviembre de 2011]. Disponible en: http://www.Phlaunt.com/diabetes/14047009.php.

  42. Maturity Onset Diabetes, Spark People [homepage en Internet]. Retrieved Jan 21; 2010 [citado 26 de noviembre de 2011]. Disponible en: http://www.Sparkpeople.com/resource/health_a-z_ detail.asp

  43. MODY (Report). Harvard [homepage en Internet]. Case report. Retrieved January 23; 2010 [citado 26 de noviembre de 2011]. Disponible en: http://www.ncbi.nlm.nih.gou/pmc/articles/PMC2972616/

  44. Renal Cysts and Diabetes Syndrome (Report) [homepage en Internet]. Case report. Retrieved May 19; 2011 [citado 26 de noviembre de 2011]. Disponible en: http://www.omim.org/entry/137920?search=48.%09Renal%20Cysts%20and%20Diabetes%20Syndrome&highlight=cysts%20diabete%20syndrome%2048%20syndromic%20diabetic%20cyst%20renal%2048.%09renal%20diabetes

  45. Fajans S, Bell G, Polonsky K. Molecular mechanisms and Clinical Pathophysiology of Maturity Onset Diabetes of the Young. N Engl J Med. 2001;345(13):971-80.

  46. Permutt MA, Hattersley A. Searching for Type 2 diabetes Genes in the Post-genoma era. Trends Endocrinol Metab. 2000;11:383-93.

  47. Dhavendra Kumar, Weatherall DJ. Genomics and clinical medicine. Oxford: University Press US; 2010. p. 184.

  48. Tusié LMT. La genética de la diabetes mellitus tipo 2: genes implicados en la diabetes de aparición temprana. Revista de Investigación Clínica. 2000;52:296-305.

  49. Plengvidhya N, Kooptiwut S, Sontawee N, Dol A, Furuta H, Nishi M, et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab. 2007;92:2821-6.

  50. Shimomura H, Sanke T, Hanabusa T, Tsumoda K, Furuta H, Nanjo K. Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history. Diabetes. 2000;49:1597-600.

  51. Raeder H, Johanssons S, Hola PI, Haldorsen IS, Mas E, Sbarre V, et al. Mutations in CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006;38:54-62.

  52. Neve B, Fernández-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Nat Acad Sci. 2005;102:4807-12.

  53. Ewan R. Pearson. Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir 6.2 Mutations. NEJM. 2006;355(5):467-77.




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