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- Title
Neonatal Diabetes - From Gene Discovery yo Clinical Practice Changes.
- Authors
Guja, Cristian; Guja, Loreta; Ionescu-Tîrgovişte, Constantin
- Abstract
Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sulphonylurea treatment. The aim of this paper is to review the known genetic causes of neonatal diabetes and to highlight the most recent aspects of the disease caused by mutations in the KATP and insulin genes, with a special focus on the individualized treatment of these cases
- Subjects
GENETICS of diabetes; DIAGNOSIS of diabetes; TREATMENT of diabetes; CHRONIC disease treatment; DIABETES in children; DIAGNOSIS of neonatal diseases; DIAGNOSIS
- Publication
Romanian Journal of Diabetes Nutrition & Metabolic Diseases, 2013, Vol 20, Issue 3, p343
- ISSN
2068-8245
- Publication type
Article
- DOI
10.2478/rjdnmd-2013-0034