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Monogenic diabetes clinic (MDC): 3-year experience.
Monogenic diabetes clinic (MDC): 3-year experience.
- Source :
-
Acta diabetologica [Acta Diabetol] 2023 Jan; Vol. 60 (1), pp. 61-70. Date of Electronic Publication: 2022 Sep 30. - Publication Year :
- 2023
-
Abstract
- Aim: In the pediatric diabetes clinic, patients with type 1 diabetes mellitus (T1D) account for more than 90% of cases, while monogenic forms represent about 6%. Many monogenic diabetes subtypes may respond to therapies other than insulin and have chronic diabetes complication prognosis that is different from T1D. With the aim of providing a better diagnostic pipeline and a tailored care for patients with monogenic diabetes, we set up a monogenic diabetes clinic (MDC).<br />Methods: In the first 3 years of activity 97 patients with non-autoimmune forms of hyperglycemia were referred to MDC. Genetic testing was requested for 80 patients and 68 genetic reports were available for review.<br />Results: In 58 subjects hyperglycemia was discovered beyond 1 year of age (Group 1) and in 10 before 1 year of age (Group 2). Genetic variants considered causative of hyperglycemia were identified in 25 and 6 patients of Group 1 and 2, respectively, with a pick up rate of 43.1% (25/58) for Group 1 and 60% (6/10) for Group 2 (global pick-up rate: 45.5%; 31/68). When we considered probands of Group 1 with a parental history of hyperglycemia, 58.3% (21/36) had a positive genetic test for GCK or HNF1A genes, while pick-up rate was 18.1% (4/22) in patients with mute family history for diabetes. Specific treatments for each condition were administered in most cases.<br />Conclusion: We conclude that MDC may contribute to provide a better diabetes care in the pediatric setting.<br /> (© 2022. The Author(s).)
Details
- Language :
- English
- ISSN :
- 1432-5233
- Volume :
- 60
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Acta diabetologica
- Publication Type :
- Academic Journal
- Accession number :
- 36178555
- Full Text :
- https://doi.org/10.1007/s00592-022-01972-2