Clinical Characterization of Patients with MODY Type Diabetes: A Case Series
DOI:
https://doi.org/10.17533/udea.iatreia.317Keywords:
Case Reports, Clinical Diagnosis, Diabetes Mellitus Type 2, Glucokinase, Hyperglycemia, Hypoglycemic AgentsAbstract
Introduction: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes with a prevalence of 1 in every 23,000 children. It is characterized by alterations in insulin secretion and the absence of autoimmunity. MODY is distinguished by persistent hyperglycemia, atypical diabetes symptoms, family history of the disease, residual pancreatic function, and absence of pancreatic beta-cell autoimmunity.
Methods and Results: This report describes the clinical characteristics of five patients with genetic diagnosis of MODY, negative insulin and islet antibody tests, and low C-peptide levels. Treatment involved nutritional management and, in some cases, low-dose glibenclamide. It is noteworthy that lack of clinical suspicion may lead to omission of MODY testing, delaying detection and affecting appropriate disease management.
Conclusions: Raising awareness among healthcare professionals for early identification of this condition is crucial, as an accurate diagnosis prevents unnecessary treatments and significantly improves patients' quality of life.
Downloads
References
(1) Lin Y, Sheng H, Hwu-Ting T, Xu A, Yin X, Cheng J, et al. Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age. BMJ Open Diab Res Care [Internet]. 2020 [citado 2024 May 9];8:1345. https://doi.org/10.1136/bmjdrc-2020-001345
(2) Greeley SAW, Polak M, Njølstad PR, Barbetti F, Williams R, Castano L, et al. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes [Internet]. 2022;23(8):1188-1211. https://doi.org/10.1111/pedi.13426
(3) Zhang H, Colclough K, Gloyn AL, Pollin TI. Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest [Internet]. 2021 [citado 2024 May 9];131(3):e142244. https://doi.org/10.1172/JCI142244
(4) Broome DT, Pantalone KM, Kashyap SR, Philipson LH. Approach to the Patient Approach to the Patient with MODY-Monogenic Diabetes. J Clin Endocrinol Metab [Internet]. 2021 [citado 2024 May 9];106(1):237-50. https://doi.org/10.1210/clinem/dgaa710
(5) Nkonge KM, Nkonge DK, Nkonge TN. The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). 2020 [citado 2024 May 9];6(20). https://doi.org/10.1186/s40842-020-00112-5
(6) Gaál Z, Szűcs, Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, et al. A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases. Life [Internet]. 2021 [citado 2024 May 9];11(8):771. https://doi.org/10.3390/life11080771
(7) Alvarez M, Rincon O, Alvarado A, Puentes F. Maturity-onset diabetes of the young type 3 and premature ovarian insufficiency: chance or causality: a case report and literature review. Endocrinol Diabetes Metab Case Rep [Internet]. 2022;2022(1). https://doi.org/10.1530/EDM-21-0166
(8) Lam-Chung C, Elizondo-Ochoa A, Segura-Kato Y, Silva-Serrano J, Tusié-Luna MT, Almeda-Valdes P. Differentiating Among Type 1, Type 2 Diabetes, and MODY: Raising Awareness About the Clinical Implementation of Genetic Testing in Latin America. AACE Clin Case Rep [Internet]. 2021 [citado 2024 May 9];7(2):138-40. https://doi.org/10.1016/j.aace.2020.11.033
(9) Urakami T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes [Internet]. 2019 [citado 2024 May 9];12:1047-1056. http://doi.org/10.2147/DMSO.S179793
(10) Gariza-Solano A, Del Aguila-Villar C, La Torre MS, Falen-Boggio J, Rojas-Gabulli M, Núñez-Almache O, et al. MODY por mutación del gen de glucoquinasa. Rev Esp Endocrinol Pediatr [Internet]. 2019;10(2):69-73. https://doi.org/10.3266/RevEspEndocrinolPediatr.pre2019.Dec.546
(11) Li X, Ting TH, Sheng H, Liang CL, Shao Y, Jiang M, et al. Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY). BMC Pediatr [Internet]. 2018;18(101). https://doi.org/10.1186/s12887-018-1060-8
(12) Chiarpenello J, Fernández L, Riccobene A, Laurenti N, Baella A, Carretto H, et al. Diabetes Mody 2: reporte de dos casos con con nueva mutación en el gen de Glucokinasa. Rev Méd Rosario [Internet]. 2015;81:123-6. Disponible en: https://ri.conicet.gov.ar/handle/11336/42661
(13) Chiarpenello J, Fresco A, Baella A, Corbacho-Re MF, Fanelli B, Gorosito V. Diabetes MODY 2 y 3: reporte de 4 casos con mutaciones nuevas. Rev Med Rosario [Internet]. 2022 [citado 2024 May 10];88(3):143-50. Disponible en: https://revistamedicaderosario.org/index.php/rm/article/view/194
(14) Bobadilla-Olaje GF, Calleja-López JRT, Ruibal-Tavares E, Rivera-Rosas CN, Aguilera-Duarte LJ. Diabetes del adulto de inicio juvenil (diabetes tipo MODY). Rev mex pediatr [Internet]. 2022;89(1):27-31. https://doi.org/10.35366/106857
(15) Aarthy R, Aston-Mourney K, Mikocka-Walus A, Radha V, Amutha A, Anjana RM, et al. Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY)-A review. 2020 [citado 2024 May 10];35(1):107640. https://doi.org/10.1016/j.jdiacomp.2020.107640
(16) Jang KM. Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment. Yeungnam Univ J Med [Internet]. 2020 [citado 2024 May 10];37(1):13-21. https://doi.org/10.12701/yujm.2019.00409
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Iatreia
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Papers published in the journal are available for use under the Creative Commons license, specifically Attribution-NonCommercial-ShareAlike 4.0 International.
The papers must be unpublished and sent exclusively to the Journal Iatreia; the author uploading the contribution is required to submit two fully completed formats: article submission and authorship responsibility.
