Abstract
MODY (Maturity onset diabetes of the young) is a specific type of diabetes caused by mutation in a single gene, involved in the development and function of the β-cells, inherited in an autosomal dominant manner (1). Out of fourteen, up to date discovered, MODY genes (2) the most often affected ones include GCK (gene encoding glucokinase enzyme) and HNF1A (encoding the transcription factor—hepatocyte nuclear factor 1α), which altogether account for approximately 80% of all MODY cases (3). Mutations in other genes (e.g., HNF4A or HNF1B—hepatocyte nuclear factor 4α and 1β), occur rarely (4). Although MODY represents a rather scarce diabetes type (1), searching for MODY among much more prevalent forms of diabetes is important and desirable for its clear impact on clinical practice—for appropriate diabetes management with the most suitable treatment (accompanied with improved quality of life) (5, 6), for assessing the real risk of development and progression of specific diabetic complications in each MODY type, as well as for early diagnosis in the patient's relatives and offspring. Nevertheless, overwhelming majority of MODY patients worldwide remains misdiagnosed (3, 7). Moreover, no unitary and up-to-date diagnostic guidelines have been established so far, and also it is not obvious, which approach to correct identification of MODY patients is optimal. The aim of this communication is to present our experiences with searching for patients with MODY in the context of current diagnostic proceedings and actual study outputs available.
Highlights
Maturity Onset Diabetes of the Young (MODY) (Maturity onset diabetes of the young) is a specific type of diabetes caused by mutation in a single gene, involved in the development and function of the β-cells, inherited in an autosomal dominant manner [1]
Up to date discovered, MODY genes [2] the most often affected ones include GCK and hepatocyte nuclear factor 1 alpha (HNF1A), which altogether account for approximately 80% of all MODY cases [3]
Substantial heterogeneity and overlapping in clinical features of MODY with other common types of diabetes considerably contribute to omission and misclassification of MODY in routine clinical praxis
Summary
MODY (Maturity onset diabetes of the young) is a specific type of diabetes caused by mutation in a single gene, involved in the development and function of the β-cells, inherited in an autosomal dominant manner [1]. A young patient diagnosed with diabetes before the age of 25 years with a marked family history of diabetes in one parental line and signs of ongoing insulin secretion (the absence of ketoacidosis/DKA at the time of diabetes onset and later on /under circumstances significantly increasing its risk or detectable C-peptide for years and obviously low doses of insulin required) should be suspected of MODY and recommended to molecular genetic testing [8]; especially when islet autoimmunity and insulin resistance are not simultaneously present, so the patient doesn’t fit either to type 1 or 2 type diabetes.
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