Kocova M, Elblova L, Pruhova S, Lebl J, Dusatkova P
University Pediatric Clinic, Skopje, The Former Yugolav Republic of Macedonia.
Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.
Diabetes Res Clin Pract. 2017 Aug;130:86-89. doi: 10.1016/j.diabres.2017.04.001. Epub 2017 May 10.
We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY.
我们报告一名在上呼吸道感染期间检测出轻度高血糖的男孩。在GCK基因第1内含子中检测到新的剪接突变（c.45+1G>A），随后在其父亲身上得到证实。这是首例经基因确诊的患有青少年发病的成年型糖尿病（MODY）的马其顿家族病例。
