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. 2023 Jan;60(1):61-70.
doi: 10.1007/s00592-022-01972-2. Epub 2022 Sep 30.

Monogenic diabetes clinic (MDC): 3-year experience

Novella Rapini  1 , Patrizia I Patera  1 , Riccardo Schiaffini  1 , Paolo Ciampalini  1 , Valentina Pampanini  1 , Matteoli M Cristina  1 , Annalisa Deodati  1 , Giorgia Bracaglia  2 , Ottavia Porzio  2   3 , Rosario Ruta  4 , Antonio Novelli  4 , Mafalda Mucciolo  4 , Stefano Cianfarani  1   5   6 , Fabrizio Barbetti  7
Affiliations

Monogenic diabetes clinic (MDC): 3-year experience

Novella Rapini et al. Acta Diabetol. 2023 Jan.

Erratum in

  • Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
    Rapini N, Patera PI, Schiaffini R, Ciampalini P, Pampanini V, Cristina MM, Deodati A, Bracaglia G, Porzio O, Ruta R, Novelli A, Mucciolo M, Cianfarani S, Barbetti F. Rapini N, et al. Acta Diabetol. 2023 Jan;60(1):71. doi: 10.1007/s00592-022-01998-6. Acta Diabetol. 2023. PMID: 36334152 Free PMC article. No abstract available.

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).

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.

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.

Conclusion: We conclude that MDC may contribute to provide a better diabetes care in the pediatric setting.

Keywords: GCK; Glibenclamide; HNF1A; INSR; Monogenic diabetes; SGLT2i.

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Conflict of interest statement

Authors have no financial or non-financial interests directly or indirectly related to the work submitted for publication.

Figures

Fig. 1
Fig. 1
Steps from patient referral to MDC to final genetic diagnosis
See this image and copyright information in PMC

References

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