ISSN: 1859 - 2872
Maturity onset diabetes of the young due to HNF1A mutations (MODY3): A case report
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Keywords
Maturity-onset diabetes of the young, HNF1a-MODY, genetic testing
Abstract
MODY diabetes, for maturity onset diabetes of the Young, is a form of monogenic diabetes characterized by a typical onset before the age of 25 years, the lack of autoimmunity against the b cells of the pancreas, a preserved β cells function, and an autosomal dominant mode of inheritance. HNF1a-MODY (MODY3) is the most common form of MODY caused by a heterozygous pathogenic variant in HNF1a. We reported a clinical case of an 18-year-old female patient with a definitive diagnosis of MODY3 by genetic testing. At the time of diagnosis, the patient had severe ocular complications, including bilateral retinal detachments. Insulin, sulfonylurea, DPP4-inhibitors treatments, and eye interventions were effective.
Article Details
References
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2. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S (2010) Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53(12): 2504-2508. doi: 10.1007/s00125-010-1799-4.
3. Nkonge KM, Nkonge DK, Nkonge TN (2020) The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). Clin Diabetes Endocrinol 6(1): 20. doi: 10.1186/s40842-020-00112-5.
4. Kleinberger JW, Copeland KC, Gandica RG, et al (2018) Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: The TODAY clinical trial. Genet Med Off J Am Coll Med Genet 20(6): 583-590. doi: 10.1038/gim.2017.150.
5. American Diabetes Association (2019) Classification and diagnosis of Diabetes: Standards of medical care in diabetes-2020. Diabetes Care 43(1): S14-S31. doi:10.2337/dc20-S002.
6. Isomaa B, Henricsson M, Lehto M et al (1998) Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 41: 467–473. https://doi.org/10.1007/s001250050931.
7. Real Hernandez LM, Fan J, Johnson MH, Gonzalez de Mejia E (2015) Berry phenolic compounds increase expression of hepatocyte nuclear factor-1α (HNF-1α) in caco-2 and normal colon cells due to high affinities with transcription and dimerization domains of HNF-1α. PLoS ONE 10(9): 0138768. doi:10.1371/journal.pone.0138768.
8. Valkovicova T, Skopkova M, Stanik J, Gasperikova D (2019) Novel insights into genetics and clinics of the HNF1A-MODY. Endocr Regul 53(2): 110-134. doi: 10.2478/enr-2019-0013.
9. Low BSJ, Lim CS, Ding SSL et al (2021) Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells. Nat Commun 12(1): 3133. doi: 10.1038/s41467-021-22843-4.
10. HNF1A. In: Wikipedia 2023. Accessed February 16,2023.https://en.wikipedia.org/w/index.php?title=HNF1A&oldid=1132417566.
11. Pearson ER, Velho G, Clark P et al (2001) beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes 50(1): 101-107. doi: 10.2337/diabetes. 50.2007. s101.
12. Sử dụng hợp lý các sulfamid hạ đường huyết. Accessed April 11, 2023. http://magazine. canhgiacduoc.org.vn/Magazine/Details/143.
13. Gordon K, Yao M, Siegel R, Stackpole K (2019) A Case of a 13-Year-Old Female With Maturity Onset Diabetes of the Young (MODY) Identified by School-Based Cardiovascular Screening. Glob Pediatr Health. 6: 2333794X19874215. doi:10.1177/2333794X19874215.
14. Tosur M, Philipson LH (2022) Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY). J Diabetes Investig 13(9): 1465-1471. doi:10.1111/jdi.13860.
15. Sriravindrarajah A, Fernandes A, Wu T, Hocking S (2021) The use of SGLT2 inhibitors in achieving glycaemic control in maturity-onset diabetes of the young type 3. Endocrinol Diabetes Metab Case Rep. doi:10.1530/EDM-21-0102.
16. hnf1a c.317_318insT Insertion (1bp) | hg38. Accessed March 10,2023. https://varsome.com/ variant/hg38/hnf1a%20c.317_318insT?annotation-mode=germline.
2. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S (2010) Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53(12): 2504-2508. doi: 10.1007/s00125-010-1799-4.
3. Nkonge KM, Nkonge DK, Nkonge TN (2020) The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). Clin Diabetes Endocrinol 6(1): 20. doi: 10.1186/s40842-020-00112-5.
4. Kleinberger JW, Copeland KC, Gandica RG, et al (2018) Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: The TODAY clinical trial. Genet Med Off J Am Coll Med Genet 20(6): 583-590. doi: 10.1038/gim.2017.150.
5. American Diabetes Association (2019) Classification and diagnosis of Diabetes: Standards of medical care in diabetes-2020. Diabetes Care 43(1): S14-S31. doi:10.2337/dc20-S002.
6. Isomaa B, Henricsson M, Lehto M et al (1998) Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 41: 467–473. https://doi.org/10.1007/s001250050931.
7. Real Hernandez LM, Fan J, Johnson MH, Gonzalez de Mejia E (2015) Berry phenolic compounds increase expression of hepatocyte nuclear factor-1α (HNF-1α) in caco-2 and normal colon cells due to high affinities with transcription and dimerization domains of HNF-1α. PLoS ONE 10(9): 0138768. doi:10.1371/journal.pone.0138768.
8. Valkovicova T, Skopkova M, Stanik J, Gasperikova D (2019) Novel insights into genetics and clinics of the HNF1A-MODY. Endocr Regul 53(2): 110-134. doi: 10.2478/enr-2019-0013.
9. Low BSJ, Lim CS, Ding SSL et al (2021) Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells. Nat Commun 12(1): 3133. doi: 10.1038/s41467-021-22843-4.
10. HNF1A. In: Wikipedia 2023. Accessed February 16,2023.https://en.wikipedia.org/w/index.php?title=HNF1A&oldid=1132417566.
11. Pearson ER, Velho G, Clark P et al (2001) beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes 50(1): 101-107. doi: 10.2337/diabetes. 50.2007. s101.
12. Sử dụng hợp lý các sulfamid hạ đường huyết. Accessed April 11, 2023. http://magazine. canhgiacduoc.org.vn/Magazine/Details/143.
13. Gordon K, Yao M, Siegel R, Stackpole K (2019) A Case of a 13-Year-Old Female With Maturity Onset Diabetes of the Young (MODY) Identified by School-Based Cardiovascular Screening. Glob Pediatr Health. 6: 2333794X19874215. doi:10.1177/2333794X19874215.
14. Tosur M, Philipson LH (2022) Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY). J Diabetes Investig 13(9): 1465-1471. doi:10.1111/jdi.13860.
15. Sriravindrarajah A, Fernandes A, Wu T, Hocking S (2021) The use of SGLT2 inhibitors in achieving glycaemic control in maturity-onset diabetes of the young type 3. Endocrinol Diabetes Metab Case Rep. doi:10.1530/EDM-21-0102.
16. hnf1a c.317_318insT Insertion (1bp) | hg38. Accessed March 10,2023. https://varsome.com/ variant/hg38/hnf1a%20c.317_318insT?annotation-mode=germline.
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Published
Dec 29, 2023
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How to Cite
QuỳnhL. T., ThảoL. T., BìnhH. T., ThắngL. M., & BảyN. Q. (2023). Maturity onset diabetes of the young due to HNF1A mutations (MODY3): A case report. Tạp Chí Y Dược lâm sàng 108, 18(8). https://doi.org/10.52389/ydls.v18i8.2088