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22.04.2016 | Original Article

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated

verfasst von: David Carmody, Rochelle N. Naylor, Charles D. Bell, Shivani Berry, Jazzmyne T. Montgomery, Elizabeth C. Tadie, Jessica L. Hwang, Siri Atma W. Greeley, Louis H. Philipson

Erschienen in: Acta Diabetologica | Ausgabe 5/2016

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Abstract

Aims

GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian Europeans. Here we describe our US cohort of GCK-MODY.

Methods

We examined the rates of detection of heterozygous mutations in the GCK gene in individuals referred to the US Monogenic Diabetes Registry with a phenotype consistent with GCK-MODY. We also assessed referral patterns, treatment and demography, including ethnicity, of the cohort.

Results

Deleterious heterozygous GCK mutations were found in 54.7 % of Registry probands selected for GCK sequencing for this study. Forty-nine percent were previously unnecessarily treated with glucose-lowering agents, causing hypoglycemia and other adverse effects in some of the subjects. The proportion of probands found to have a GCK mutation through research-based testing was similar across each ethnic group. However, together African-American, Latino and Asian subjects represented only 20.5 % of screened probands and 17.2 % of those with GCK-MODY, despite higher overall diabetes prevalence in these groups.

Conclusions

Our data show that a high detection rate of GCK-MODY is possible based on clinical phenotype and that prior to genetic diagnosis, a large percentage are inappropriately treated with glucose-lowering therapies. We also find low minority representation in our Registry, which may be due to disparities in diagnostic diabetes genetic testing and is an area needing further investigation.

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Titel: GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
verfasst von: David Carmody
Rochelle N. Naylor
Charles D. Bell
Shivani Berry
Jazzmyne T. Montgomery
Elizabeth C. Tadie
Jessica L. Hwang
Siri Atma W. Greeley
Louis H. Philipson
Publikationsdatum: 22.04.2016
Verlag: Springer Milan
Erschienen in: Acta Diabetologica / Ausgabe 5/2016
Print ISSN: 0940-5429
Elektronische ISSN: 1432-5233
DOI: https://doi.org/10.1007/s00592-016-0859-8

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