Maturity Onset Diabetes of the Young of eleven Chinese Children

Abstract

Objective To identify characteristics of eleven children with Maturity Onset Diabetes of the Young (MODY) and reveal the correlation between phenotypes and genotypes for these patients. Methods We collected clinical characteristics including age at diagnosis, gender, clinical symptoms, physical examinations, development histories, laboratory data, and family histories, etc. Next-generation sequencing (NGS) panels were used to reveal the genetic variants for these patients. Results There were 6 male and 5 female patients in this study, age at diagnosis ranged from 5.1 to 14.5 years old, and body mass index (BMI) ranged from 18.1 kg/m2 to 31.6 kg/m2, 6 of them were overweight or obese. 13 mutations were identified from 11 patients in 8 genes: HNF4A and INSR (n = 1), GCK (n = 3), HNF1A (n = 2), PAX4 (n = 1), HNF1B (n = 2), BLK and ABCC8 (n = 1), and ABCC8 (n = 1). 2 patients obtained two mutations those could cause diabetes. Glutamate decarboxylase antibody (GADA) and islet associated antibody (IAA) were positive in the patient with PAX4-MODY. And clinical features of patients with the same MODY type were still different from each other. Insulin was used for patients with MODY 3, MODY 5, MODY 9, and 3 MODY 12 patients in this study. Conclusion Family history of hyperglycemia is not an exact clinical feature of every MODY, genetic sequencing should be applied for more patients with diabetes. The proportions of GCK-MODY were greater than others, and treatment for children with MODY is still challenging.