Article

Review on monogenic diabetes

Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, Florida, United States
Current opinion in endocrinology, diabetes, and obesity (Impact Factor: 3.77). 08/2011; 18(4):252-8. DOI: 10.1097/MED.0b013e3283488275
Source: PubMed

ABSTRACT The goal of this review is to provide an update on the different forms of monogenic diabetes, including maturity-onset diabetes of the young (MODY) and neonatal diabetes (permanent and transient neonatal diabetes).
Monogenic diabetes accounts for approximately 1-2% of diabetes cases and results from mutations that primarily reduce β-cell function. Individuals with islet autoantibody negative youth-onset forms of diabetes should be evaluated for either glucokinase-MODY or transcription factors MODY. The mild-fasting hyperglycemia found in glucokinase-MODY typically does not necessitate pharmacological treatment, whereas patients with MODY caused by transcription factor mutations can often be successfully treated with low-dose sulfonylurea. Neonatal diabetes is defined as diabetes onset within the first 6 months of life and most individuals with permanent neonatal diabetes can be treated with high-dose sulfonylurea.
The discovery of the genetic cause of monogenic diabetes has greatly advanced our understanding and management of these uncommon forms of diabetes.

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