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Minerva Pediatrica 2020 Apr 09

DOI: 10.23736/S0026-4946.20.05838-7


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 Francesca 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 Pediatric Diabetology Unit, Pediatric Department, Diabetes Research Institute, Scientific Institute Ospedale San Raffaele, Milan, Italy; 3 Department of Science of Health, Hub Regional Center of Pediatric Diabetology, University of Oriental Piemonte AOU Maggiore della Carità, Novara, Italy; 4 Department of Molecular Medicine and Medical Biotechnology, CEINGE Advanced Biotechnologies, University of Naples "Federico II", Naples, Italy; 5 Department of Pediatrics, Ankara Training and Research Hospital, University of Health Science, Ankara, Turkey; 6 Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy


INTRODUCTION: Congenital diabetes mellitus is a rare disorder characterized by hyperglycaemia that occurs shortly after birth. We define “Diabetes of Infancy” if hyperglycaemia 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.
EVIDENCE ACQUISITION: 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.
EVIDENCE SYNTHESIS: 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 cels the switch from insulin to Glibenclamide per os has greatly improved the quality of life.
CONCLUSIONS: 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 hypoglycaemic agents and the apparent lower frequency of chronic complications.

KEY WORDS: Neonatal diabetes mellitus; Congenital diabetes mellitus; PNDM; TNDM

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