Not Autoimmune Diabetes Mellitus in Paediatrics
The rooted conviction according to which the childhood diabetes should only be an autoimmune diabetes is gradually disappearing, thanks to the discovery of not autoimmune paediatric diabetes.
- PDF / 287,500 Bytes
- 10 Pages / 439.37 x 666.14 pts Page_size
- 100 Downloads / 191 Views
12
Dario Iafusco, Santino Confetto, Angela Zanfardino, Alessia Piscopo, Francesca Casaburo, Alessandra Cocca, Elisabetta Caredda, Giulia Pezzino, Nadia Tinto, Daniele Pirozzi, Angela Napoli, Fabrizio Barbetti, and Laura Perrone
12.1
Introduction
Type 1 diabetes is still the most common type of diabetes in paediatric age, but in order to distinguish it from other forms of autoimmune diabetes mellitus, some autoimmune markers must be evaluated in all newly diagnosed patients. These markers are the following antibodies: ICA, GAD, IA-2, IAA and ZnT8.
D. Iafusco, MD (*) • S. Confetto • A. Zanfardino • A. Piscopo • F. Casaburo A. Cocca • E. Caredda • L. Perrone Department of Woman, Child and of General and Specialistic Surgery, Surgery, Second University of Naples (SUN), Regional Centre of Paediatric Diabetology “G.Stoppoloni”, Via S. Andrea delle Dame, 4, Naples 80138, Italy e-mail: [email protected]; [email protected]; [email protected]; [email protected]; [email protected]; [email protected]; [email protected]; [email protected] G. Pezzino Endocrinology Unit, Department of Clinical and Molecular Biomedicine, Garibaldi-Nesima Medical Center, University of Catania, Via Palermo 636, Catania 95100, Italy e-mail: [email protected] N. Tinto • D. Pirozzi CEINGE (Centro di Ingegneria Genetica) Advanced Biotechnology, s. c. a r. l., Via Pansini, Naples, Italy e-mail: [email protected]; [email protected] A. Napoli Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, S. Andrea Hospital, Sapienza University, Via di Grottarossa 1035-1039, Rome 00189, Italy e-mail: [email protected] F. Barbetti Laboratory of Mendelian Diabetes, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy Department of Experimental Medicine and Surgery, University of Tor Vergata, Rome, Italy e-mail: [email protected] © Springer International Publishing Switzerland 2017 A. Scaramuzza et al. (eds.), Research into Childhood-Onset Diabetes, DOI 10.1007/978-3-319-40242-0_12
137
138
D. Iafusco et al.
The evaluation of four antibodies, GAD, IA2, IAA and ZnT8, allows the recognition of 98.2 % of autoimmune cases [1]. If all autoimmune markers are absent (at least in the 3 % of the paediatric patients), we have to take in account other forms of children’s diabetes, as hereditary forms due to monogenic mutations. Type 1 diabetes is not hereditary for definition, so if in a family there are many cases of diabetes appeared at all ages, we have to take in account the possible diagnosis of monogenic diabetes (Table 12.1). In order to understand the pathogenic mechanism of these mutations, it is useful to remind the physiology of the pancreatic beta cell’s secretion (Fig. 12.1). Mutations in genes involved in insulin secretion or in nuclear beta-cell transcription factors that limit the ability of the pancreas to produce insulin are the cause of the major non-autoimmune diabetes forms of the paediatric age. Nowadays 13 forms of MODY have bee
Data Loading...
