Monogenic Diabetes: A Diagnostic Algorithm for Clinicians

Genes

Richard W. Carroll¹ 

[1] Endocrine, Diabetes and Research Centre, Wellington Regional Hospital, Private Bag 7902, Newtown, Wellington 6021, New Zealand; E-Mail:

关键词: monogenic;    diabetes;    maturity onset diabetes of the young;    neonatal diabetes;    genetic testing;   

DOI  :  10.3390/genes4040522

来源: mdpi

【 摘 要 】

Monogenic forms of beta cell diabetes account for approximately 1%–2% of all cases of diabetes, yet remain underdiagnosed. Overlapping clinical features with common forms of diabetes, make diagnosis challenging. A genetic diagnosis of monogenic diabetes in many cases alters therapy, affects prognosis, enables genetic counseling, and has implications for cascade screening of extended family members. We describe those types of monogenic beta cell diabetes which are recognisable by distinct clinical features and have implications for altered management; the cost effectiveness of making a genetic diagnosis in this setting; the use of complementary diagnostic tests to increase the yield among the vast majority of patients who will have commoner types of diabetes which are summarised in a clinical algorithm; and the vital role of cascade genetic testing to enhance case finding.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.