MODY dijabetes - monogenski nasljedni dijabetes u mladih osoba: mini osvrt
DOI:
https://doi.org/10.13112/pc.1165Ključne riječi:
Dijabetes melitus tipa 2; Lučenje inzulina; Genetsko testiranje; Personalizirana medicinaSažetak
Cilj ovog kratkog osvrta je prikazati najčešće kliničke varijante monogenskog nasljednog dijabetesa mladih (MODY, engl. maturity onset diabetes of the young).
MODY karakteriziraju autosomno dominantni način nasljeđivanja, rani klinički nastup bolesti (obično prije 25. godine života) i očuvana endogena sekrecija inzulina bez znakova za autoimuno oštećenje gušterače.
Najčešći tipovi MODY dijabetesa u Europi i SAD-u su: glukokinaza-MODY (GCK-MODY), hepatocitni nuklearni faktor 1 alfa MODY (HNF1A-MODY) i hepatocitni nuklearni faktor 4 MODY (HNF4A-MODY).
Specifične značajke mogu ukazivati na posebne podtipove MODY-a, kao što su ciste na bubregu (HNF1B-MODY), makrosomija i/ili novorođenačka hipoglikemija (HNF4A-MODY), egzokrina disfunkcija gušterače ili ciste na gušterači (CEL-MODY) ili oštećenje sluha i majčino nasljeđivanje dijabetesa (mitohondrijski dijabetes)
Podtipovi MODY dijabetesa su izvrstan klinički primjer personalizirane medicine u dijabetesu u kojoj genetska dijagnoza bolesti prognozira klinički tijek bolesti i odgovor na specifičnu terapiju. Ne postoje uniformni klinički kriteriji za postavljanje dijagnoze MODY dijabetesa te je potrebno iskustvo i dobra klinička sumnja koju je potrebno potvrditi genetskim testiranjem.
Reference
1. American Diabetes Association Professional Practice Committee. 2. Diagnosis and classification of diabetes: Standards of care in diabetes-2025. Diabetes Care. 2025;48:S27–49. doi:10.2337/dc25-S002
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. 2022;23:1188–211. doi: 10.1111/pedi.13426.
3. Tosur M, Philipson LH. Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY). J Diabetes Investig. 2022;13:1465-71. doi: 10.1111/jdi.13860.
4. Firdous P, Nissar K, Ali S, Ganai BA, Shabir U, Hassan T, et al. Genetic testing of maturity-onset diabetes of the young current status and future perspectives. Front Endocrinol (Lausanne). 2018;9. doi: 10.3389/fendo.2018.00253.
5. Delvecchio M, Pastore C, Giordano P. Treatment Options for MODY Patients: A Systematic Review of Literature. Diabetes Ther. 2020;11:1667-85. doi: 10.1007/s13300-020-00864-4.
6. Ellard S, Bellanné-Chantelot C, Hattersley AT, European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008;51:546–53. doi: 10.1007/s00125-008-0942-y.
7. Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002;45:427-35. doi: 10.1007/s00125-001-0770-9.
8. Zhao Q, Ding L, Yang Y, Sun J, Wang M, Li X, et al. Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review. Front Endocrinol (Lausanne). 2022;13:900489. doi: 10.3389/fendo.2022.900489.
9. Liu J, Xiao X, Zhang Q, Yu M. Insights from basic adjunctive examinations of GCK-MODY, HNF1A-MODY, and type 2 diabetes: A systemic review and meta-analysis. J Diabetes. 2023;15:519-31. doi: 10.1111/1753-0407.13390.
10. Baldacchino I, Pace NP, Vassallo J. Screening for monogenic diabetes in primary care. Prim Care Diabetes. 2020;14:1-11. doi: 10.1016/j.pcd.2019.06.001.
11. Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. 2003;22:353-62. doi: 10.1002/humu.10277.
12. Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, et al. Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia. 2012;55:123-7. doi: 10.1007/s00125-011-2319-x.
13. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child. 2009;94:450-7. doi: 10.1136/adc.2008.148171.
14. De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, et al. Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020;41:884–905.
15. Bonnefond A, Unnikrishnan R, Doria A, Vaxillaire M, Kulkarni RN, Mohan V, et al. Monogenic diabetes. Nat Rev Dis Primers. 2023;9:12. doi: 10.1038/s41572-023-00421-w.
Preuzimanja
Objavljeno
Broj časopisa
Rubrika
Licenca
Autorska prava (c) 2026 Marija Požgaj Šepec
Ovo djelo je licencirano pod licencom Creative Commons Attribution 4.0 Međunarodna licenca.
By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.
