Re-diagnosis of diabetes mellitus type 1 to maturity-onset diabetes of the young type 2 (MODY 2) in a 26-year-old male: a case report
DOI:
https://doi.org/10.12775/QS.2024.18.53394Keywords
diabetes mellitus, MODY, insulin, genetic testingAbstract
Diabetes mellitus (DM) encompasses a spectrum of metabolic disorders characterized by hyperglycemia due to defects in insulin secretion, action, or both. Type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) are the most prevalent forms, whereas Maturity-Onset Diabetes of the Young (MODY) represents a monogenic subtype, often misdiagnosed due to its phenotypic overlap. This case study highlights a 26-year-old male initially diagnosed with T1DM at age 12, managed with insulin therapy. Upon admission, despite stable glycemic control and preserved C-peptide secretion, genetic testing revealed MODY 2 due to a variant in the GCK gene. Unlike T1DM and T2DM, MODY 2 is characterized by mild, persistent hyperglycemia with a low risk of complications, emphasizing the importance of genetic diagnosis for tailored management and family counseling. This case underscores the critical role of genetic evaluation in accurately diagnosing and managing atypical diabetes presentations.
References
Sun H, Saeedi P, Karuranga S, et al. IDF Diabetes Atlas: Global, regional and country-level diabetes prevalence estimates for 2021 and projections for 2045. Diabetes Res Clin Pract. 2022;183:109119. https://doi.org/10.1016/j.diabres.2021.109119.
Atkinson MA, Eisenbarth GS, Michels AW. Type 1 diabetes. Lancet. 2014;383(9911):69-82. https://doi.org/10.1016/S0140-6736(13)60591-7.
Zheng Y, Ley SH, Hu FB. Global aetiology and epidemiology of type 2 diabetes mellitus and its complications. Nat Rev Endocrinol. 2018;14(2):88-98. https://doi.org/10.1038/nrendo.2017.151.
Harding JL, Pavkov ME, Magliano DJ, Shaw JE, Gregg EW. Global trends in diabetes complications: a review of current evidence. Diabetologia. 2019;62(1):3-16. https://doi.org/10.1007/s00125-018-4711-2.
Steele AM, Shields BM, Wensley KJ, Ellard S, Hattersley AT. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014;311(3):279-286. https://doi.org/10.1001/jama.2013.283980.
Amed S, Oram R. Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment. Can J Diabetes. 2016 Oct;40(5):449-454. https://doi.org/10.1016/j.jcjd.2016.03.002. Epub 2016 Apr 26.
Aarthy R, Aston-Mourney K, Mikocka-Walus A, Radha V, Amutha A, Anjana RM, Unnikrishnan R, Mohan V. Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review. J Diabetes Complications. 2021 Jan;35(1):107640. https://doi.org/10.1016/j.jdiacomp.2020.107640.
Pacholczyk M, Krawczyk-Rusiecka K, Ferenc T. Diabetes of the young MODY - molecular background, clinical features and treatment. Advances in Cell Biology. 2022; 49(4): 267-307 https://doi.org/10.59674/pbk8.
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001 Sep 27;345(13):971-80. https://doi.org/10.1056/NEJMra002168.
Tsakiris D, Ioannou K. An underdiagnosed type of diabetes: the MODY syndromes. Pathophysiology, clinical presentation and renal disease progression. J Nephrol. 2004 Sep-Oct;17(5):637-41.
Urakami T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes. 2019 Jul 8;12:1047-1056. https://doi.org/10.2147/DMSO.S179793.
Peixoto-Barbosa R, Reis AF, Giuffrida FMA. Update on clinical screening of maturity-onset diabetes of the young (MODY). Diabetol Metab Syndr. 2020 Jun 8;12:50. https://doi.org/10.1186/s13098-020-00557-9.
Delvecchio M, Pastore C, Giordano P. Treatment Options for MODY Patients: A Systematic Review of Literature. Diabetes Ther. 2020 Aug;11(8):1667-1685. https://doi.org/10.1007/s13300-020-00864-4.
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Copyright (c) 2024 Bartosz Siudek, Olgierd Dróżdż, Wiktoria Bińczyk, Karina Lissak, Bianka Nowińska, Patrycja Brzozowska, Anna Wiśniewska
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