Maturity Onset Diabetes of the Young: case report
Keywords:
Diabetes Mellitus, Hyperglycemia, Sulfonylurea CompoundsAbstract
Background: Maturity Onset Diabetes of the Young (MODY) is a type of diabetes that results from mutations in 13 known genes that play a role in the development and maturation of pancreatic beta cells. It represents 5% of all individuals diagnosed with diabetes before the age of 45 years and it is misdiagnosed as type 1 or type 2 diabetes in 80% of the cases.
Clinical case: We present the case of a 21-year old female, initially diagnosed with type 1 diabetes when she was 19 years, and glycemic dyscontrol despite adequate use of long-acting insulin. She had family history of diabetes and persisting glycosuria. Due to high suspicions of MODY diabetes we requested an oral glucose tolerance test (basal 130 mg/dL, 2 hours post-glucose load 240 mg/dL) and serum concentrations of C-peptide (1.83 ng/mL) that confirmed our diagnosis. The patient improved after treatment with sulfonylurea with discontinuation of insulin treatment.
Conclusion: Prompt identification of MODY allows patients to have effective and safe treatments and prevent the development of premature complications; in addition, its identification allows genetic counseling and can guide the management of other first-degree relatives who also suffer from it.
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References
Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with Type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med. 2009;26(5);466-73. Disponible en https://onlinelibrary.wiley.com/doi/full/10.1111/j.1464-5491.2009.02720.x
Anik A, Catli G, Abaci A, Bober E. Maturity-onset diabetes of the young (MODY): an update. J Pediatr Endocrinol Metab. 2015;28(3-4):251-63. doi: 10.1515/jpem-2014-0384.
Dominguez-Lopez A, Miliar-Garcia A, Segura-Kato YX, Riba L, Esparza-Lopez R, Ramirez-Jimenez S, et al. Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families. JOP. 2005;6(3);238-45. Disponible en http://www.joplink.net/prev/200505/06.html
Gardner DS, Tai ES. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabetes Metab Syndr Obes. 2012;5:101-8. doi: 10.2147/DMSO.S23353.
Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011 Aug;34(8):1878-84. Disponible en https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142024/
Fernandez EB. [Monogenic forms of diabetes mellitus]. An R Acad Nac Med (Madr). 2006;123(1):211-7; discussion 218.
Cameron FJ, Wherrett DK. Care of diabetes in children and adolescents: controversies, changes, and consensus. Lancet. 2015;385(9982):2096-106. doi: 10.1016/S0140-6736(15)60971-0.
McDonald TJ, Ellard S. Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem. 2013 Sep;50(Pt 5):403-15. doi: 10.1177/0004563213483458.
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