Aetiopathology and genetic basis of neonatal diabetes
| Autor: | M L Whiteford, R.S. James, R. J. Gardner, Julian P.H. Shield, J. D. Baum, Emma Jane Kirsty Wadsworth, I K Temple, David O. Robinson |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
Pediatrics Type 2 diabetes Genomic Imprinting Neonatal diabetes mellitus Internal medicine Diabetes mellitus Medicine Humans business.industry Incidence (epidemiology) Infant Newborn Obstetrics and Gynecology General Medicine Original Articles Permanent neonatal diabetes mellitus Infant Low Birth Weight medicine.disease Aneuploidy Low birth weight Endocrinology Diabetes Mellitus Type 1 Uniparental Isodisomy Diabetes Mellitus Type 2 Transient neonatal diabetes mellitus Pediatrics Perinatology and Child Health Chromosomes Human Pair 6 medicine.symptom business |
| Zdroj: | ResearcherID |
| Popis: | A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement for exogenous insulin treatment was three months. A significant number of cases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region. The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified. Keywords: neonatal diabetes; uniparental isodisomy; chromosome 6; type 2 diabetes. |
| Databáze: | OpenAIRE |
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