Congenital diabetes mellitus.

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.