Co-existence of type 1 diabetes and monogenic diabetes in one family: getting the diagnosis right

Authors

  • Jolyon Dales Department of Diabetes, Leicester General Hospital, University Hospitals of Leicester NHS Trust
  • Masato Ahsan Department of Diabetes, Leicester General Hospital, University Hospitals of Leicester NHS Trust
  • Rob Gregory Department of Diabetes, Leicester General Hospital, University Hospitals of Leicester NHS Trust
  • Marie-France Kong Department of Diabetes, Leicester General Hospital, University Hospitals of Leicester NHS Trust

DOI:

https://doi.org/10.15277/bjd.2024.447

Keywords:

monogenic diabetes, MODY, HNF1A, genetics, MODY3

References

Tattersall RB, Fajans SS. A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people. Diabetes 1975;24(1):44-53. https://doi.org/10.2337/diab.24.1.44. PMID: 1122063.

NIH. Monogenic Diabetes (Neonatal Diabetes and Mody). Webpage. https://www.niddk.nih.gov/health-Information/diabetes/overview/what-is-diabetes/monogenic-neonatal-mellitus-mody Accessed 10th September 2022

Shepherd M, Shields B, Hammersley S, et al; UNITED Team. Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes. Diabetes Care 2016;39(11):1879-88. https://doi.org/10.2337/dc16-0645. Epub 2016 Jun 6. PMID:27271189; PMCID: PMC5018394.

Shields BM, Shepherd M, Hudson M, et al; UNITED study team. Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients. Diabetes Care 2017;40(8):1017-25. https://doi.org/10.2337/dc17-0224. PMID: 28701371; PMCID: PMC5570522.

Diabetes Genes. Hepatic Nuclear Factor 1 Alpha. Webpage https://www.diabetesgenes.org/what-is-mody/hepatic-nuclear-factor-1-alpha-hnf1a/ Accessed 21st December 2023

Foteinopoulou E, Clarke CAL, Pattenden RJ, et al. Impact of routine clinic measurement of serum C-peptide in people with a clinician- diagnosis of type 1 diabetes. Diabet Med 2021;38(7):e14449. https://doi.org/10.1111/dme.14449. Epub 2020 Nov 22. PMID: 33131101.

Brandes GIG, Peixoto-Barbosa R, Meski APG, Giuffrida FMA, Reis AF. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY. Arch Endocrinol Metab 2022;66(3):420–4. https://doi.org/10.20945/2359-3997000000477. Epub ahead of print. PMID: 35551682; PMCID: PMC9832856.

Frommer L, Kahaly GJ. Type 1 diabetes and associated autoimmune diseases. World J Diabetes 2020;11(11):527-39. https://doi.org/10.4239/wjd.v11.i11.527. PMID: 33269064; PMCID: PMC7672792.

Barker JM. Clinical review: type 1 diabetes-associated autoimmunity: natural history, genetic associations, and screening. J Clin Endocrinol Metab 2006;91(4):1210-17. https://doi.org/10.1210/jc.2005-1679. Epub 2006 Jan 10. PMID: 16403820.

NIH. HNF1A Gene. Webpage. https://medlineplus.gov/genetics/gene/hnf1a/#conditions. Accessed 10th September 2022.

Bellanné-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008;57(2):503-8. https://doi.org/10.2337/db07-0859. Epub 2007 Nov 14. PMID: 18003757.

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Published

2024-06-30

Issue

Vol. 24 No. 1 (2024): June 2024

Section

Case Reports

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