title: Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.
abstract: Maturity onset diabetes of the young (MODY) is a rare but increasingly recognized cause of diabetes in young people. It is a monogenic disorder that typically presents at <25 years of age, is non-insulin dependent and is familial, with an autosomal dominant pattern of inheritance. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. MODY is commonly misdiagnosed as type 1 or type 2 diabetes and, as a result, patients are often inappropriately managed with insulin when they can be more effectively managed with oral sulfonylureas. Therefore, making the right diagnosis is critical for effective treatment as well as for genetic counselling and, more important, for patients' quality of life. In this review, we aim to raise awareness about MODY among diabetes clinicians by describing key clinical and laboratory features of the most common forms of MODY, outlining features that might help to differentiate MODY from type 1 and type 2 diabetes and providing information about clinical tests and tools that might assist in identifying patients who are most likely to benefit from molecular genetic testing.
authors.affiliation: Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: samed@cw.bc.ca.
authors.forename: Shazhan
authors.initials: S
authors.lastname: Amed
authors.affiliation: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom; Clinical Islet Transplant Program, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Richard
authors.initials: R
authors.lastname: Oram
mesh_terms: D000293:Adolescent; D002648:Child; D002985:Clinical Protocols; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic; D035583:Rare Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy
keywords: diabetes; diabète; diabète de la maturité apparaissant chez le jeune (MODY); facteur nucléaire hépatocytaire; glucokinase; hepatic nuclear factor; maturity onset diabetes of the young (MODY); monogenic; monogénique