Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation
Makaleler > Tam Makale · 2012
Yazarlar: Erdem Durmaz, Sarah Flanagan, Afig BERDELİ, Serap Semiz, Sema Akcurin, Sian Ellard, Iffet Bircan
Journal of Pediatric Endocrinology and Metabolism, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2012, cilt 25, ss 805-8
Özet
Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life. We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. We conclude that the specific GCK mutation, as yet unidentified genetic modifiers, and/or environmental factors might have different effects on pancreatic beta-cell functions, causing variability in the age at diagnosis of diabetes.