Details

Autor(en) / Beteiligte

• Thanabalasingham, Gaya
• Owen, Katharine R

Titel

Diagnosis and management of maturity onset diabetes of the young (MODY)

Ist Teil von

• BMJ, 2011-10, Vol.343 (oct19 3), p.d6044-d6044

Auflage

International edition

Ort / Verlag

England: BMJ Publishing Group

Erscheinungsjahr

2011

Quelle

Applied Social Sciences Index & Abstracts (ASSIA)

Beschreibungen/Notizen

• Maturity onset diabetes of the young (MODY) comprises a heterogeneous group of monogenic disorders characterised by β cell dysfunction. It is estimated to be the underlying cause of diabetes in 1-2% of patients diagnosed with diabetes, but prevalence estimates will not be accurate until large population screening studies are performed. It is important to distinguish MODY from type 1 and type 2 diabetes, because optimal treatments are different. Furthermore, first degree relatives have a 50% probability of inheriting the same mutation, which confers a greater than 95% lifetime risk of developing diabetes. Distinguishing people who have rare forms of diabetes such as MODY from those with type 1 or type 2 diabetes is a diagnostic challenge because clinical features are similar. In this review we discuss when the general physician might suspect MODY and how to identify which patients with diabetes should be offered genetic testing. We focus on the recognition of the common forms of MODY in people diagnosed with diabetes in the age range 10-45 years, drawing mainly on evidence from small trials and cross sectional and observational studies. Other causes of monogenic diabetes, including neonatal diabetes, are beyond the scope of this review. [PUBLICATION ABSTRACT]