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Clinical implications of the glucokinase impaired function - GCK MODY today
J Hulín1, M Škopková, T Valkovičová
1Department of Pediatrics, Medical Faculty of the Comenius University, Bratislava, Slovakia. juraj.stanik@savba.sk.
Physiological Research
|November 1, 2020
Summary
Glucokinase (GCK) gene mutations cause GCK-MODY, a mild diabetes form often misdiagnosed. Genetic testing is key, though challenges exist. Treatment is usually unnecessary, except for pregnant women needing insulin for affected fetuses.
Area of Science:
- Genetics
- Endocrinology
- Molecular Biology
Background:
- GCK-MODY, caused by inactivating glucokinase gene mutations, is a common MODY type.
- Characterized by stable fasting hyperglycemia and low complication risk, it's often misdiagnosed as type 1 or type 2 diabetes.
- Diagnostic challenges exist in both clinical and genetic assessments.
Purpose of the Study:
- To review current knowledge on GCK-MODY.
- To discuss diagnostic complexities and unresolved issues.
- To highlight the importance of differentiating GCK-MODY in pregnancy.
Main Methods:
- Literature review of GCK-MODY.
- Analysis of diagnostic criteria and genetic testing challenges.
- Review of treatment strategies, particularly during pregnancy.
Main Results:
- GCK-MODY typically requires no medication.
- Misdiagnosis is common due to overlapping symptoms with other diabetes types.
- Distinguishing GCK-MODY from gestational diabetes is critical during pregnancy to prevent fetal complications.
Conclusions:
- Accurate diagnosis of GCK-MODY relies on clinical suspicion confirmed by genetic analysis.
- Specialized criteria are needed for GCK-MODY diagnosis in pregnant women.
- Further research is needed to address current diagnostic and treatment challenges in monogenic diabetes.
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