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REVIEW  MANAGEMENT OF THE MAIN ENDOCRINE AND DIABETIC DISORDERS IN CHILDREN 

Minerva Pediatrica 2020 August;72(4):240-9

DOI: 10.23736/S0026-4946.20.05838-7

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

Congenital diabetes mellitus

Dario IAFUSCO 1 , Angela ZANFARDINO 1, Riccardo BONFANTI 2, Ivana RABBONE 3, Nadia TINTO 4, Fernanda IAFUSCO 4, Serena MEOLA 4, Maria F. GICCHINO 1, Gulsum OZEN 5, Francesca CASABURO 1, Alessia PISCOPO 1, Emanuele MIRAGLIA DEL GIUDICE 1, Fabrizio BARBETTI 6

1 Department of Pediatrics, University of Campania “Luigi Vanvitelli”, Naples, Italy; 2 Unit of Pediatric Diabetology, Department of Pediatrics, Diabetes Research Institute, San Raffaele Scientific Institute, Milan, Italy; 3 Hub Regional Center of Pediatric Diabetology, Department of Science of Health, Maggiore della Carità University Hospital,
University of Eastern Piedmont, Novara, Italy; 4 CEINGE Advanced Biotechnologies, Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy; 5 Department of Pediatrics, University of Health Science, Ankara Training and Research Hospital, Ankara, Turkey; 6 Department of Experimental Medicine, Tor Vergata University, Rome, Italy



Congenital diabetes mellitus is a rare disorder characterized by hyperglycemia that occurs shortly after birth. We define “Diabetes of Infancy” if hyperglycemia onset before 6 months of life. From the clinical point of view, we distinguish two main types of diabetes of infancy: transient (TNDM), which remits spontaneously, and permanent (PNDM), which requires lifelong treatment. TNDM may relapse later in life. About 50% of cases are transient (TNDM) and 50% permanent. Clinical manifestations include severe intrauterine growth retardation, hyperglycemia and dehydration. A wide range of different associated clinical signs including facial dysmorphism, deafness and neurological, cardiac, kidney or urinary tract anomalies are reported. Developmental delay and learning difficulties may also be observed. In this paper we review all the causes of congenital diabetes and all genes and syndromes involved in this pathology. The discovery of the pathogenesis of most forms of congenital diabetes has made it possible to adapt the therapy to the diagnosis and in the forms of alteration of the potassium channels of the pancreatic Beta cells the switch from insulin to glibenclamide per os has greatly improved the quality of life. Congenital diabetes, although it is a very rare form, has been at the must of research in recent years especially for pathogenesis and pharmacogenetics. The most striking difference compared to the more frequent autoimmune diabetes in children (type 1 diabetes) is the possibility of treatment with hypoglycemic agents and the apparent lower frequency of chronic complications.


KEY WORDS: Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal, 1; Diabetes mellitus, congenital autoimmune

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