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Congenital diabetes mellitus
- Publication Year :
- 2020
- Publisher :
- Edizioni Minerva Medica, 2020.
-
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.
- Subjects :
- Blood Glucose
Congenital diabetes mellitu
Diabetes mellitu
Pediatrics
medicine.medical_specialty
Urinary system
medicine.medical_treatment
Germinal Center Kinases
Diabetes Complications
Pathogenesis
03 medical and health sciences
Rare Diseases
0302 clinical medicine
Diabetes mellitus
Quality of life
Congenital autoimmune
030225 pediatrics
Diabetes Mellitus
medicine
Humans
Hypoglycemic Agents
Insulin
Type 1 diabetes
business.industry
Infant, Newborn
PNDM
Neonatal diabetes mellitu
medicine.disease
Sulfonylurea Compounds
030228 respiratory system
Hyperglycemia
TNDM
Permanent neonatal
Infant, Small for Gestational Age
Mutation
Pediatrics, Perinatology and Child Health
Severe intrauterine growth retardation
Transient neonatal, 1
business
Pharmacogenetics
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....756e5a89fd318fa305c191bba1ffa423