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1. Increasing trend of type 1 diabetes incidence in the pediatric population of the Calabria region in 2019–2021

Author

Stefano Passanisi, Giuseppina Salzano, Monica Aloe, Bruno Bombaci, Felice Citriniti, Fiorella De Berardinis, Rosaria De Marco, Nicola Lazzaro, Maria C. Lia, Rosanna Lia, Francesco Mammì, Filomena A. Stamati, Rosanna M. R. Toscano, Claudia Ventrici, Dario Iafusco, Fortunato Lombardo, Passanisi, Stefano, Salzano, Giuseppina, Aloe, Monica, Bombaci, Bruno, Citriniti, Felice, De Berardinis, Fiorella, De Marco, Rosaria, Lazzaro, Nicola, Lia, Maria C, Lia, Rosanna, Mammì, Francesco, Stamati, Filomena A, Toscano, Rosanna M R, Ventrici, Claudia, Iafusco, Dario, and Lombardo, Fortunato

Subjects
Male, Adolescent, Epidemiology, SARS-CoV-2, Incidence, COVID-19, Diabetes Mellitus, Type 1, Humans, Female, Diabetic ketoacidosi, Child, Children, Pandemics, Retrospective Studies
Abstract

Background Although type 1 diabetes (T1D) represents one of the most common chronic diseases in pediatric age, few studies on the epidemiology of T1D exist globally and the exact prevalence and incidence rates of the disease are unknown. In many countries, including Italy, national registries are missing. Methods This study aims to assess T1D incidence in the pediatric population of the Calabria region (southern Italy) in the period 2019–2021. The secondary objective was to describe the main demographical, clinical and immunological features of incident cases. Case ascertainment and all clinical data were assessed by retrospectively reviewing the electronic medical records of children and adolescents diagnosed with diabetes at any Pediatric Diabetes Center belonging to the Rete Diabetologica Calabrese (Calabria Region Diabetes Network), from January 2019 to December 2021. The incidence of T1D was estimated for the entire region and was stratified according to age group (0–4 years, 5–9 years, and 10–14 years) and gender. Standardized incidence ratios for each province in the region were also calculated. Results The crude incidence of T1D was 20.6/100,000 person/years. Incidence rates were higher among females and children aged 5–9 years. The crude incidence of T1D was higher in the province of Reggio Calabria (26.5/100,000 person-years). The provinces of Crotone, Catanzaro, and Vibo Valentia showed significantly lower standardized incidence ratios. The annual incidence in the region progressively increased by 43% during the study period. Conclusions Our study revealed a relatively high incidence in the Calabria region. The marked increasing incidence trend over the past two years could be related to the global impact of the COVID-19 pandemic, but further long-scale population-based studies are needed to confirm these findings.

Published
2022
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2. Differences between Transient Neonatal Diabetes Mellitus Subtypes can Guide Diagnosis and Therapy

Author

Riccardo Bonfanti, Dario Iafusco, Ivana Rabbone, Giacomo Diedenhofen, Carla Bizzarri, Patrizia Ippolita Patera, Petra Reinstadler, Francesco Costantino, Valeria Calcaterra, Lorenzo Iughetti, Silvia Savastio, Anna Favia, Francesca Cardella, Donatella Lo Presti, Ylenia Girtler, Sarah Rabbiosi, Giuseppe D’Annunzio, Angela Zanfardino, Alessia Piscopo, Francesca Casaburo, Letizia Pintomalli, Lucia Russo, Valeria Grasso, Nicola Minuto, Mafalda Mucciolo, Antonio Novelli, Antonella Marucci, Barbara Piccini, Sonia Toni, Francesca Silvestri, Paola Carrera, Andrea Rigamonti, Giulio Frontino, Michela Trada, Davide Tinti, Maurizio Delvecchio, Novella Rapini, Riccardo Schiaffini, Corrado Mammì, Fabrizio Barbetti, Monica Aloe, Simona Amadeo, Claudia Arnaldi, Marta Bassi, Luciano Beccaria, Marzia Benelli, Giulia Maria Berioloi, Enrica Bertelli, Martina Biagioni, Adriana Bobbio, Stefano Boccato, Oriana Bologna, Franco Bontempi, Clara Bonura, Giulia Bracciolini, Claudia Brufani, Patrizia Bruzzi, Pietro Buono, Roberta Cardani, Giuliana Cardinale, Alberto Casertano, Maria Cristina Castiglione, Vittoria Cauvin, Valentino Cherubini, Franco Chiarelli, Giovanni Chiari, Stefano Cianfarani, Dante Cirillo, Felice Citriniti, Susanna Coccioli, Anna Cogliardi, Santino Confetto, Giovanna Contreas, Anna Corò, Elisa Corsini, Nicoletta Cresta, Fiorella De Berardinis, Valeria De Donno, Giampaolo De Filippo, Rosaria De Marco, Annalisa Deodati, Elena Faleschini, Valentina Fattorusso, Valeria Favalli, Barbara Felappi, Lucia Ferrito, Graziella Fichera, Franco Fontana, Elena Fornari, Roberto Franceschi, Francesca Franco, Adriana Franzese, Anna Paola Frongia, Alberto Gaiero, Francesco Gallo, Luigi Gargantini, Elisa Giani, Chiara Giorgetti, Giulia Bianchi, Vanna Graziani, Antonella Gualtieri, Monica Guasti, Gennaro Iannicelli, Antonio Iannilli, Ignaccolo Giovanna, Dario Ingletto, Stefania Innaurato, Elena Inzaghi, Brunella Iovane, Peter Kaufmann, Alfonso La Loggia, Rosa Lapolla, Anna Lasagni, Nicola Lazzaro, Lorenzo Lenzi, Riccardo Lera, Gabriella Levantini, Fortunato Lombardo, Antonella Lonero, Silvia Longhi, Sonia Lucchesi, Lucia Paola Guerraggio, Sergio Lucieri, Patrizia Macellaro, Claudio Maffeis, Bendetta Mainetti, Giulio Maltoni, Chiara Mameli, Francesco Mammì, Maria Luisa Manca-Bitti, Melania Manco, Monica Marino, Matteo Mariano, Marco Marigliano, Alberto Marsciani, Costanzo Mastrangelo, Maria Cristina Matteoli, Elena Mazzali, Franco Meschi, Antonella MIgliaccio, Anita Morandi, Gianfranco Morganti, Enza Mozzillo, Gianluca Musolino, Rosa Nugnes, Federica Ortolani, Daniela Pardi, Filomena Pascarella, Stefano Passanisi, Annalisa Pedini, Cristina Pennati, Angelo Perrotta, Sonia Peruzzi, Paola Peverelli, Giulia Pezzino, Anita Claudia Piona, Gavina Piredda, Carmelo Pistone, Elena Prandi, Barbara Pedieri, Procolo Di Bonito, Anna Pulcina, Maria Quinci, Emioli Randazzo, Rossella Ricciardi, Carlo Ripoli, Rosanna Roppolo, Irene Rutigliano, Alberto Sabbio, Silvana salardi, Alessandro Salvatoni, Anna Saporiti, Rita Sardi, Mariapiera Scanu, Andrea Scaramuzza, Eleonardo Schiven, Andrea Secco, Linda Sessa, Paola Sogno Valin, Silvia Sordelli, Luisa Spallino, Stefano Stagi, Filomena Stamati, Tosca Suprani, Valentina Talarico, Tiziana Timapanaro, Antonella Tirendi, Letizia Tomaselli, Gianluca Tornese, Adolfo Andrea Trettene, Stefano Tumini, Giuliana Valerio, Claudia Ventrici, Matteo Viscardi, Silvana Zaffani, Maria Zampolli, Giorgio Zanette, Clara Zecchino, Maria Antonietta Zedda, Silvia Zonca, Stefano Zucchini, Bonfanti, R., Iafusco, D., Rabbone, I., Diedenhofen, G., Bizzarri, C., Patera, P. I., Reinstadler, P., Costantino, F., Calcaterra, V., Iughetti, L., Savastio, S., Favia, A., Cardella, F., Presti, D. L., Girtler, Y., Rabbiosi, S., D'Annunzio, G., Zanfardino, A., Piscopo, A., Casaburo, F., Pintomalli, L., Russo, L., Grasso, V., Minuto, N., Mucciolo, M., Novelli, A., Marucci, A., Piccini, B., Toni, S., Silvestri, F., Carrera, P., Rigamonti, A., Frontino, G., Trada, M., Tinti, D., Delvecchio, M., Rapini, N., Schiaffini, R., Mammi, C., and Barbetti, F.

Subjects
Proband, Male, Pediatrics, Potassium Channels, Endocrinology, Diabetes and Metabolism, Datasets as Topic, Diagnosis, Differential, Diagnostic Techniques, Endocrine, Female, Humans, Infant, Infant, Newborn, Italy, Mutation, Potassium Channels, Inwardly Rectifying, Remission Induction, Retrospective Studies, Sulfonylurea Receptors, Diabetes Mellitus, Infant, Newborn, Diseases, Diseases, Gastroenterology, Diabetes mellitus genetics, Endocrinology, Settore MED/13, Retrospective Studie, Diagnosis, Medicine, Endocrine pancreas, Transient Neonatal Diabetes Mellitus, 6q24 TNDM, KATP TNDM, Sulfonylureas, Sulfonylureas, Sulfonylurea Receptor, biology, Diabetes Mellitu, General Medicine, Metformin, Inwardly Rectifying, Settore MED/03, 6q24 TNDM, medicine.symptom, Endocrine, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Human, endocrine system, medicine.medical_specialty, KATP TNDM, ABCC8, Transient Neonatal Diabetes Mellitus, Internal medicine, Diabetes mellitus, Macroglossia, Endocrine pancreas, business.industry, medicine.disease, Newborn, Diagnostic Techniques, Transient neonatal diabetes mellitus, Differential, biology.protein, Sulfonylurea receptor, business
Abstract

Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

Published
2021

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