Diabetes is one of the most prevalent diseases worldwide, whereby type 1 diabetes mellitus (T1DM) alone involves nearly 15 million patients. Although T1DM and type 2 diabetes mellitus (T2DM) are the most common types, there are other forms of diabetes which may remain often under-diagnosed, or that can be misdiagnosed as being T1DM or T2DM. After an initial diagnostic step, the differential diagnosis among T1DM, T2DM, Maturity-Onset Diabetes of the Young (MODY) and others forms has important implication for both therapeutic and behavioral decisions. Although the criteria used for diagnosing diabetes mellitus are well defined by the guidelines of the American Diabetes Association (ADA), no clear indications are provided on the optimal approach to be followed for classifying diabetes, especially in children. In this circumstance, both routine and genetic blood test may play a pivotal role. Therefore, the purpose of this article is to provide, through a narrative literature review, some elements that may aid accurate diagnosis and classification of diabetes in children and young people.
Research funding: None declared.
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Competing interests: Authors state no conflict of interest.
4. Dabelea, D, Mayer-Davis, EJ, Saydah, S, Imperatore, G, Linder, B, Divers, J, et al. Prevalence of type 1 and type 2 diabetes among children and adolescents from 2001 to 2009. Jama 2014;311:1778–86. https://doi.org/10.1001/jama.2014.3201. Search in Google Scholar
5. Mayer-Davis, EJ, Lawrence, JM, Dabelea, D, Divers, J, Isom, S, Dolan, L, et al. Incidence trends of type 1 and type 2 diabetes among youths, 2002–2012. N Engl J Med 2017;376:1419–29. https://doi.org/10.1056/nejmoa1610187. Search in Google Scholar
6. American Diabetes Association. Classification and diagnosis of diabetes: standards of medical care in diabetes-2020. Diabetes Care 2020;43:S14–31. https://doi.org/10.2337/dc20-S002. Search in Google Scholar
7. Dabelea, D, Rewers, A, Stafford, JM, Standiford, DA, Lawrence, JM, Saydah, S, et al. Trends in the prevalence of ketoacidosis at diabetes diagnosis: the SEARCH for diabetes in youth study. Pediatrics 2014;133:e938–45. https://doi.org/10.1542/peds.2013-2795. Search in Google Scholar
8. Kao, KT, Sabin, MA. Type 2 diabetes mellitus in children and adolescents. Aust Fam Physician 2016;45:401–6. Search in Google Scholar
9. Sanyoura, M, Philipson, LH, Naylor, R. Monogenic diabetes in children and adolescents: recognitions and treatment options. Curr Diab Rep 2018;18:58. https://doi: 10.1007/s11892-018-1024-2. Search in Google Scholar
10. Redondo, MJ, Rodriguez, LM, Escalante, M, Smith, EO, Balasubramanyam, A, Haymond, MW. Types of pediatric diabetes mellitus defined by anti-islet autoimmunity and random C-peptide at diagnosis. Pediatr Diabetes 2013;14:333–40. https://doi.org/10.1111/pedi.12022. Search in Google Scholar
11. Cho, MJ, Kim, MS, Kim, CJ, Kim, EY, Kim, JD, Kim, EY, et al. Fasting serum C-peptide is useful for initial classification of diabetes mellitus in children and adolescents. Ann Pediatr Endocrinol Metabol 2014;19:80–5. https://doi.org/10.6065/apem.2014.19.2.80. Search in Google Scholar
12. Ludvigsson, J, Carlsson, A, Forsander, G, Ivarsson, S, Kockum, I, Lernmark, A, et al. C-peptide in the classification of diabetes in children and adolescents. Pediatr Diabetes 2012;13:45–50. https://doi.org/10.1111/j.1399-5448.2011.00807.x. Search in Google Scholar
13. Jefferies, C, Rhodes, E, Rachmiel, M, Agwu, JC, Kapellen, T, Abdulla, MA, et al. ISPAD clinical practice consensus guidelines 2018: management of children and adolescents with diabetes requiring surgery. Pediatr Diabetes 2018;27:227–36. https://doi.org/10.1111/pedi.12733. Search in Google Scholar
14. Urakami, T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes 2019;12:1047–56. https://doi.org/10.2147/dmso.s179793. Search in Google Scholar
15. Anik, A, Catli, G, Abaci, A, Bober, E. Maturity-onset diabetes of the young (MODY): an update. J Pediatric Endocrinol Metab 2015;28:251–63. Search in Google Scholar
16. Lemelman, MB, Letourneau, L, Greeley, SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol 2018;45:41–59. https://doi.org/10.1016/j.clp.2017.10.006. Search in Google Scholar
18. Zhu, J, Yang, P, Liu, X, Yan, L, Rampersad, S, Li, F, et al. The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: compared with type 1 diabetes and early onset type 2 diabetes. J Diabetes Complicat 2017;31:1354–59. https://doi.org/10.1016/j.jdiacomp.2017.04.001. Search in Google Scholar
19. Yeung, RO, Hannah-Shmouni, F, Niederhoffer, K, Walker, MA. Not quite type 1 or type 2, what now? review of monogenic, mitochondrial, and syndromic diabetes. Rev Endocr Metab Disord 2018;19:35–52. https://doi.org/10.1007/s11154-018-9446-3. Search in Google Scholar
20. Sethi, A, Foulds, N, Ehtisham, S, Ahmed, SH, Houghton, J, Colclough, K, et al. Heterozygous insulin receptor (INSR) mutation associated with neonatal hyperinsulinemic, hypoglycaemia and familial diabetes mellitus: case series. J Clin Res Pediatr Endocrinol 2020. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0106. Search in Google Scholar
21. Kirel, B, Bozdağ, Ö, Köşger, P, Aydoğdu, SD, Alıncak, E, Tekin, N. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene. Turk Pediatri Ars 2017;52(4): 226–30. https://doi.org/10.5152/turkpediatriars.2017.3193. Search in Google Scholar
22. Sobhani, M, Tabatabaiefar, MA, Ghafouri-Fard, RA, Hojjat, A, Kajbafzadeh, AM, et al. Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. BMC Med Genet 2020;21:13. https://doi.org/10.1186/s12881-020-0980-y. Search in Google Scholar
25. Khan, SA, Muhammad, N, Khan, MA, Kamal, A, Rehman, ZU, Khan, S. Genetics of human Bardet–Biedl syndrome, an updates. Clin Genet 2016;90:3–15. https://doi.org/10.1111/cge.12737. Search in Google Scholar
26. Kadakia, S, Farmaes, L, Diammock, D, Chowdhury, S, Ding, Y, Anderson, EJ, et al. Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. Clin Case Rep 2019;7:2123–7. https://doi.org/10.1002/ccr3.2438. Search in Google Scholar
27. Wei, L, Liu, Y, Sun, S, Tang, Y, Chen, S, Song, S. Case report of 49, XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. Medicine (Baltimore) 2019;98: e17342. https://doi.org/10.1097/md.0000000000017342. Search in Google Scholar
28. Avila, M, Dyment, DA, Sagen, JV, St-Onge, J, Moog, U, Chung, BHY, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin Genet 2016;89:501–6. https://doi.org/10.1111/cge.12688. Search in Google Scholar
29. Dinkhauser, P, Paesold, J, Hubner, D, Steffan, V, Lampl, R, Hofer, H. Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. Wien Med Wochenschr 2019. https://doi.org/10.1007/s10354-019-00717-1. Search in Google Scholar
30. Varlamov, EV, McCartney, S, Fleseriu, M. Functioning pituitary adenomas – current treatment options and emerging medical therapies. Eur Endrocrinol 2019;15(1): 30–40. https://doi.org/10.17925/EE.2019.15.1.30. Search in Google Scholar
31. Holder, M, Schwitzgebel, V. Early onset diabetes in two children due to Progeria, a monogenic disease of DNA repair. J Clin Res Pediatr Endocrinol 2019. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0126. Search in Google Scholar
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