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Acta Diabetologica

, Volume 55, Issue 9, pp 981–983 | Cite as

Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?

  • Maurizio Delvecchio
  • Giuseppina Salzano
  • Clara Bonura
  • Vittoria Cauvin
  • Valentino Cherubini
  • Giuseppe d’Annunzio
  • Adriana Franzese
  • Sabrina Giglio
  • Valeria Grasso
  • Vanna Graziani
  • Dario Iafusco
  • Lorenzo Iughetti
  • Riccardo Lera
  • Claudio Maffeis
  • Giulio Maltoni
  • Vilma Mantovani
  • Claudia Menzaghi
  • Patrizia I. Patera
  • Ivana Rabbone
  • Petra Reindstadler
  • Sabrina Scelfo
  • Nadia Tinto
  • Sonia Toni
  • Stefano Tumini
  • Fortunato Lombardo
  • Antonio Nicolucci
  • Fabrizio Barbetti
  • The Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
Letter to the Editor
  • 34 Downloads

GCK-MODY and HNF1A-MODY are the most common subtypes of Maturity Onset Diabetes of the Young (MODY) [1, 2, 3]. HNF1A-MODY mutation carriers may respond to sulfonylureas, while GCK-MODY does not necessitate therapy; therefore, molecular diagnosis is instrumental to guide therapeutic decision. In many laboratories next-generation sequencing is not available yet, and genetic testing of common MODY genes is performed using Sanger DNA sequencing. Thus, establishing which gene has to be screened first is mainly based on clinician expertise. Though HNF1A mutation carriers are frequently diagnosed with overt diabetes, both GCK-MODY and HNF1A-MODY can present with impaired fasting glucose (IFG). In the latter case, oral glucose tolerance test (OGTT) may help to distinguish between the two types [4]; however, a less expensive and time-consuming test would be preferable. GCK-MODY is usually considered in pediatric patients negative to type 1 diabetes (T1D)-related autoantibodies and stable, mild...

Keywords

Maturity Onset Diabetes of the Young/MODY HbA1c Differential diagnosis Fasting plasma glucose 

Notes

Author contributions

All Authors and contributors researched data and critically reviewed the paper. MD collected data, performed statistics and drafted the paper. AN performed statistics. FB, the guarantor of the paper, conceived the study, collected data, and critically revised the manuscript.

Compliance with ethical standards

Conflict of interest

Authors have no conflict of interest to declare.

Human and animal rights

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committe and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Fot this type of study formal consent is not required.

References

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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  • Maurizio Delvecchio
    • 1
  • Giuseppina Salzano
    • 2
  • Clara Bonura
    • 3
  • Vittoria Cauvin
    • 4
  • Valentino Cherubini
    • 5
  • Giuseppe d’Annunzio
    • 6
  • Adriana Franzese
    • 7
  • Sabrina Giglio
    • 8
  • Valeria Grasso
    • 9
  • Vanna Graziani
    • 10
  • Dario Iafusco
    • 11
  • Lorenzo Iughetti
    • 12
  • Riccardo Lera
    • 13
  • Claudio Maffeis
    • 14
  • Giulio Maltoni
    • 15
  • Vilma Mantovani
    • 16
  • Claudia Menzaghi
    • 17
  • Patrizia I. Patera
    • 18
  • Ivana Rabbone
    • 19
  • Petra Reindstadler
    • 20
  • Sabrina Scelfo
    • 21
  • Nadia Tinto
    • 22
  • Sonia Toni
    • 23
  • Stefano Tumini
    • 24
  • Fortunato Lombardo
    • 2
  • Antonio Nicolucci
    • 25
  • Fabrizio Barbetti
    • 9
    • 26
  • The Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
  1. 1.Pediatric and Neonatology Unit, Mother and Children Health Care Department“Madonna delle Grazie” Hospital, ASL Matera, Contrada Cattedra AmbulanteMateraItaly
  2. 2.Department of Pediatric SciencesUniversity of MessinaMessinaItaly
  3. 3.Endocrine Unit, Department of Pediatrics, Diabetes Research Institute (OSR-DRI)Scientific Institute Hospital San RaffaeleMilanItaly
  4. 4.Pediatric Diabetology UnitS. Chiara HospitalTrentoItaly
  5. 5.S.O.D. Pediatric Diabetology, Department of Women’s and Children HealthSalesi HospitalAnconaItaly
  6. 6.Istituto Giannina GasliniRegional Center for Pediatric DiabetesGenoaItaly
  7. 7.Regional Center of Pediatric DiabetologyUniversity of Naples Federico IINaplesItaly
  8. 8.Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, and Meyer Children’s University HospitalUniversity of FlorenceFlorenceItaly
  9. 9.Department of Experimental Medicine and SurgeryUniversity of Rome Tor VergataRomeItaly
  10. 10.Pediatric UnitS. Maria delle Croci Hospital, AUSL della RomagnaRavennaItaly
  11. 11.Department of Pediatrics, Regional Center for Pediatric Diabetology “G.Stoppoloni”University of Campania “Luigi Vanvitelli”NaplesItaly
  12. 12.Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and AdultsUniversity of Modena and Reggio EmiliaModenaItaly
  13. 13.Department of PediatricsAlessandria HospitalAlessandriaItaly
  14. 14.Pediatric Diabetes and Metabolic Disorders Unit, Department of Surgical Science, Dentistry, Ginecology and PediatricsUniversity of VeronaVeronaItaly
  15. 15.Department of PediatricsS. Orsola-Malpighi University HospitalBolognaItaly
  16. 16.Center for Applied Biomedical Research (CRBA) and Medical Genetics UnitSt. Orsola University HospitalBolognaItaly
  17. 17.Research Unit of Diabetes and Endocrine DiseaseIRCCS Casa del Sollievo della SofferenzaSan Giovanni Rotondo (FG)Italy
  18. 18.Pediatric Diabetology Unit, University Department of Pediatric MedicineBambino Gesù Children HospitalRomeItaly
  19. 19.Department of PediatricsRegina Margherita Children HospitalTurinItaly
  20. 20.Department of PediatricsGeneral Hospital BolzanoBolzanoItaly
  21. 21.Pediatric Diabetes UnitHealth Service of CaltanissettaCaltanissettaItaly
  22. 22.Department of Molecular Medicine and Medical BiotechnologyUniversity of Naples Federico II, and CEINGE, Advanced BiotechnologyNaplesItaly
  23. 23.Juvenile Diabetes CenterMeyer Children’s HospitalFlorenceItaly
  24. 24.Center of Pediatric DiabetologyUniversity of ChietiChietiItaly
  25. 25.CORESEARCH-Center for Outcomes Research and Clinical EpidemiologyPescaraItaly
  26. 26.Bambino Gesù Children’s Hospital, IRCCSRomeItaly

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