Diabetes MODY: when the prevalence is proportional to suspect

Authors

  • Gabriela Krochik Pediatric Hospital Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

DOI:

https://doi.org/10.47196/diab.v51i4.36

Keywords:

MODY, monogenic diabetes, GCK, HNF1B

Abstract

Commonly diabetes mellitus is divided into two large groups: type 1 and type 2, both with complex etiologies that there is an interaction between multiple genetic and environmental factors. In the particular case of Pediatrics and our region, the vast majority of cases is diagnosed as type 1 diabetes, although in the past 20 years the nutritional transition and the epidemiological changes secondary to it have hampered the diagnostic process of some pediatric patients. Main confusing factors include the increase of the body mass index in children with both types of diabetes, early diagnosis without ketosis and cell function beta preserved in adolescents with type 1 and overweight, the possibility to debut in ketosis or Ketoacidosis in pediatric patients with type 2 diabetes and a family history of diabetes 2 increased in both cases frequency.

Author Biography

Gabriela Krochik, Pediatric Hospital Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina

Medical Pediatrician; Head of the Nutrition Department

References

Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, et al. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HF1A, HNF4A and glucokinasa: results from the SEARCH for diabetes in youth. J Clin Endocrinol Metab 2013; 98(10): 4055-4062.

Costa A, Bescos M, Velho G, Chvre J, Vidal J, Sesmilo G, et al. Genetic and clinical characterization of maturity-onset diabetes of the young in Spanish famillies. Eur J Endocrinol 2000; 142(4): 380-386.

Lorini R, Klersy C, d’Annunzio G, Massa O, Minuto N, et al. Maturity-onset diabetes of the Young in children with incidental hyperglycemia: a multicenter Italina study of 172 families. Diabetes Care 2009; 32(10): 1864-1866.

Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanne-Chantelot C. Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet 2014; 22(9): E1-E6.

Thanabalasingham G, Owen KR. Diagnosis and managment of maturity onset diabetes of the young (MODY). BMJ 2011; 343: d6044.

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; 53(12): 2504-2508.

American Diabetes Association. Classification and diagnosis of diabetes. Diabetes Care 2015; 38(Suppl): S8-S16.

ISPAD Clinical Practice Consensus Guidelines 2009 Compendium. The diagnosis and managment of monogenic diabetes in children and adolscents. Pediatric Diabetes 2009; 10 (Suppl 12): 33-42

Spegel P Ekholm E, Tuomi T, el al. Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2). Diabetes 2013; 62(2): 653-61

Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007; 4(4): e118

Published

2023-01-10

How to Cite

Krochik, G. (2023). Diabetes MODY: when the prevalence is proportional to suspect. Journal of the Argentine Society of Diabetes, 51(4), 123–125. https://doi.org/10.47196/diab.v51i4.36

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