The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
Giovanna Maione,
Fernanda Iafusco,
Angela Zanfardino,
Alessia Piscopo,
Gulsum Ozen,
Dario Iafusco,
Nadia Tinto
Affiliations
Giovanna Maione
Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Via S. Pansini, 5-80131 Naples, Italy
Fernanda Iafusco
Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Via S. Pansini, 5-80131 Naples, Italy
Angela Zanfardino
Regional Centre of Paediatric Diabetology “G. Stoppoloni”, Department of Woman, Child and of General and Specialized Surgery, University of Campania “L. Vanvitelli”, Via L. De Crecchio, 2-80138 Naples, Italy
Alessia Piscopo
Regional Centre of Paediatric Diabetology “G. Stoppoloni”, Department of Woman, Child and of General and Specialized Surgery, University of Campania “L. Vanvitelli”, Via L. De Crecchio, 2-80138 Naples, Italy
Gulsum Ozen
Department of Pediatrics, University of Health Science, Kecioren Training and Research Hospital, Ankara 06100, Turkey
Dario Iafusco
Regional Centre of Paediatric Diabetology “G. Stoppoloni”, Department of Woman, Child and of General and Specialized Surgery, University of Campania “L. Vanvitelli”, Via L. De Crecchio, 2-80138 Naples, Italy
Nadia Tinto
Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Via S. Pansini, 5-80131 Naples, Italy
In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1–6% of all pediatric–adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. In some cases, MD patients can avoid insulin and be treated with oral hypoglycemic drugs with a perceptible impact on both the quality of life and the healthcare costs. However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members.
