ArticleActa diabetologica2023
Monogenic diabetes clinic (MDC): 3-year experience.
Article in Acta diabetologica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.
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8 citing papers in PubMed, 10 citations in OpenAlex.
- Exploring the therapeutic response to sodium-glucose cotransporter-2 inhibition in INSR-related insulin resistance monogenic diabetes: case-based analysis and narrative review.Acta diabetologica · 2026Article
- Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.Acta diabetologica · 2026Article
- Autoimmune hyperglycemia: beyond type 1 diabetes.Acta diabetologica · 2025Article
- Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.JCI insight · 2025Article
- Widening the phenotypic spectrum caused by pathogenicBMJ open diabetes research & care · 2024Article
- The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.The Journal of clinical endocrinology and metabolism · 2024Article
- Circulating hsa-miR-320a and its regulatory network in type 1 diabetes mellitus.Frontiers in immunology · 2024Article
- Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.Diabetologia · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimIn 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).
methodsIn 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.
resultsIn 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.
conclusionWe conclude that MDC may contribute to provide a better diabetes care in the pediatric setting.
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