An Overview of Glucokinase Gene Mutation: A Case Series Study of Six Maturity-Onset Diabetes of The Young Type 2 Patients From North of Iran

Abstract

Daniel Zamanfar, Saeid Abediankenari, Mahsa Amoli, Mohamad Bagher Hashemi-Soteh, Somayyeh Hashemian, Fatemeh Ferdosipour and Somayeh Rostami Maskopaii

Background Maturity-onset diabetes of the young type 2 (MODY 2) is a specific form of MODY that is distinguished by persistent hyperglycemia without any associated vascular complications. The objective of this study was to assess the clinical findings of six patients with MODY 2.

Case presentation We conducted a study involving six caucasian children, consisting of five boys (with disease onset of 7, 9, 5, 15, and 6 years old, respectively) and a 2-year-old girl. All of the mutations observed were missense mutations. Among the patients, two had the same mutation (c.G1130A). Additionally, we identified a new heterozygous mutation in the GCK gene, specifically a G to A transition at nucleotide 1342 (exon 10, c.G1342A). One patient exhibited insulin resistance and tested positive for auto-antibodies against ICA and GAD. At the time of diagnosis, three patients presented with symptoms of polydipsia and polyuria, while the others were initially asymptomatic. Three patients were prescribed anti-diabetic medication, while the remaining patients were initially managed through dietary interventions.

Conclusion Hyperglycemic symptoms, the existence of autoantibodies, and insulin resistance, should not discourage us from considering a MODY 2 diagnosis. Given the conflicting opinions on patient management, conducting a genetic analysis is beneficial as it reduces treatment expenses and allows for distinguishing between MODY 2 and other subtypes of MODY.

PDF