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The Medical Journal of Australia
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The Medical Journal of Australia
Article . 2017 . Peer-reviewed
License: Wiley Online Library User Agreement
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A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase‐MODY

Authors: Ramy H Bishay; Ramy H Bishay; Jerry R. Greenfield; Jerry R. Greenfield;

A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase‐MODY

Abstract

Maturity onset diabetes of the young (MODY), the most common monogenic form of diabetes, accounts for 1-2% of all diabetes diagnoses. Glucokinase (GCK)-MODY (also referred to as MODY2) constitutes 10-60% of all MODY cases and is inherited as an autosomal dominant heterozygous mutation, resulting in loss of function of the GCK gene. Patients with GCK-MODY generally have mild, fasting hyperglycaemia that is present from birth, are commonly leaner and diagnosed at a younger age than patients with type 2 diabetes, and rarely develop complications from diabetes. Hence, treatment is usually unnecessary and may be ceased. Therefore, genetic screening is recommended in all young patients (< 40 years) with an autosomal dominant family history of diabetes and who lack features of the metabolic syndrome and type 1 diabetes. Further, treatment discontinuation should be discussed with the patient as part of the informed consent process, as the realisation that prior treatment may have not been necessary - or that it could have been less burdensome - may have psychological implications for the patient. This is true for other forms of MODY, such as hepatocyte nuclear factor 1A mutations (MODY3) where hyperglycaemia is managed with low dose sulfonylurea rather than insulin. Patients with GCK-MODY, in line with trends in the general population, are becoming older and more overweight and obese, and are concomitantly developing features of insulin resistance and glucose intolerance. Therefore, controversy exists as to whether such "treatment-exempt" patients should be reassessed for treatment later in life. As testing becomes more accessible, clinicians and patients are likely to embrace genetic screening earlier in the course of diabetes, which may avert the consequences of delayed testing years after diagnosis and treatment initiation.

Country
Australia
Keywords

Blood Glucose, medical genetics, diagnostic techniques and procedures, 616, Glucokinase, Medicine and Health Sciences, Hypoglycemic Agents, Insulin, Humans, maturity onset diabetes of the young (MODY), Genetic Testing, glucokinase, 110306 - Endocrinology, regulation, Middle Aged, non-insulin-dependent diabetes, Metformin, Diabetes Mellitus, Type 2, glucokinase-MODY, Hyperglycemia, Mutation, Female, endrocine system diseases, Insulin Resistance

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
48
Top 10%
Top 10%
Top 10%
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