Monogenic diabetes: the impact of making the right diagnosis

Current Opinion in Pediatrics
Anastasia G HarrisSiri Atma W Greeley

Abstract

Monogenic forms of diabetes have received increased attention and genetic testing is more widely available; however, many patients are still misdiagnosed as having type 1 (T1D) or type 2 diabetes. This review will address updates to monogenic diabetes prevalence, identification, treatment, and genetic testing. The creation of a T1D genetic risk score and the use of noninvasive urinary C-peptide creatinine ratios have provided new tools to aid in the discrimination of possible monogenic diabetes from likely T1D. Early, high-dose sulfonylurea treatment in infants with a KCNJ11 or ABCC8 mutation continues to be well tolerated and effective. As the field moves towards more comprehensive genetic testing methods, there is an increased opportunity to identify novel genetic causes. Genetic testing results continue to allow for personalized treatment but should provide patient information at an appropriate health literacy level. Although there have been clinical and genetic advances in monogenic diabetes, patients are still misdiagnosed. Improved insurance coverage of genetic testing is needed. The majority of data on monogenic diabetes has been collected from Caucasian populations, therefore, research studies should endeavor to include...Continue Reading

References

Aug 4, 2006·The New England Journal of Medicine·Andrey P BabenkoPhilippe Froguel
Aug 4, 2006·The New England Journal of Medicine·Ewan R PearsonUNKNOWN Neonatal Diabetes International Collaborative Group
Sep 15, 2007·Proceedings of the National Academy of Sciences of the United States of America·Julie StøyUNKNOWN Neonatal Diabetes International Collaborative Group
Aug 21, 2009·Diabetes Research and Clinical Practice·Agnieszka GachWojciech Mlynarski
Oct 20, 2009·The Journal of Clinical Endocrinology and Metabolism·Oscar Rubio-CabezasSian Ellard
Dec 26, 2009·Biochemical and Biophysical Research Communications·Soo-Young ParkGraeme I Bell
Oct 13, 2010·Reviews in Endocrine & Metabolic Disorders·Julie StøyGraeme I Bell
Sep 29, 2011·Acta Diabetologica·D IafuscoUNKNOWN Early Diabetes Study Group of ISPED
Jun 19, 2013·The Journal of Clinical Endocrinology and Metabolism·Catherine PihokerUNKNOWN SEARCH for Diabetes in Youth Study Group
Jan 17, 2014·JAMA : the Journal of the American Medical Association·Anna M SteeleAndrew T Hattersley
Feb 26, 2014·Pediatrics·Marianne BeckerKlemens Raile
Sep 23, 2014·The Journal of Clinical Endocrinology and Metabolism·David CarmodySiri Atma W Greeley
Dec 9, 2014·Diabetic Medicine : a Journal of the British Diabetic Association·K RaileUNKNOWN DPV Initiative the German BMBF Competence Network Diabetes Mellitus
Mar 13, 2015·Diabetic Medicine : a Journal of the British Diabetic Association·A R BosmaL Henneman
Apr 17, 2015·Diabetologia·Brian W ThurberUNKNOWN United States Neonatal Diabetes Working Group
Apr 19, 2016·Diabetic Medicine : a Journal of the British Diabetic Association·P BowmanA T Hattersley
May 26, 2016·Diabetic Medicine : a Journal of the British Diabetic Association·D CarmodyS A W Greeley
Jun 13, 2016·Diabetes Research and Clinical Practice·Ariel Pablo LopezGustavo Daniel Frechtel
Aug 25, 2016·Pediatric Diabetes·Karen A LandmeierMichael E Msall
Nov 14, 2016·Diabetes & Metabolism·D Dubois-LaforgueUNKNOWN Monogenic Diabetes Study Group of the Société Francophone du Diabète (SFD)

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Citations

Dec 17, 2020·Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy·Faiza BouldjennetRachida Raache
May 6, 2021·Cell Reports Medicine·Kristina G Maxwell, Jeffrey R Millman

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