Congenital diabetes mellitus

Minerva Pediatr. 2020 Aug;72(4):240-249. doi: 10.23736/S0026-4946.20.05838-7. Epub 2020 Apr 9.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Blood Glucose / analysis
  • Diabetes Complications
  • Diabetes Mellitus / classification
  • Diabetes Mellitus / congenital*
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics
  • Germinal Center Kinases / genetics
  • Humans
  • Hyperglycemia
  • Hypoglycemic Agents / therapeutic use
  • Infant, Newborn
  • Infant, Small for Gestational Age / blood
  • Insulin / therapeutic use
  • Mutation
  • Rare Diseases / classification
  • Rare Diseases / complications
  • Rare Diseases / congenital*
  • Rare Diseases / drug therapy
  • Sulfonylurea Compounds / therapeutic use

Substances

  • Blood Glucose
  • Germinal Center Kinases
  • Hypoglycemic Agents
  • Insulin
  • MAP4K2 protein, human
  • Sulfonylurea Compounds