Abstract:
: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.
journal_name
Genes (Basel)journal_title
Genesauthors
Carroll RW,Murphy Rdoi
10.3390/genes4040522subject
Has Abstractpub_date
2013-09-26 00:00:00pages
522-35issue
4issn
2073-4425pii
genes4040522journal_volume
4pub_type
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