HORMONE RESEARCH IN PAEDIATRICS, cilt.84, sa.1, ss.54-61, 2015 (SCI-Expanded)
Background: The urinary C-peptide/creatinine ratio (UCPCR) and fasting C-peptide level can assess beta-cell function in clinical practice. In the present study, the use of the UCPCR and fasting C-peptide levels was investigated in the differential diagnosis between maturity-onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM). Methods: Twenty-seven patients with genetically confirmed MODY by next-generation sequence analysis and 42 children with T1DM were included. C-peptide levels were measured after an overnight fast before breakfast, and urine samples were collected 2 h after a standard lunch in the hospital. Results: The UCPCR in the T1DM group was 0.17 +/- 0.5 nmol/mmol, and in the MODY group it was 1.27 +/- 1.03 nmol/mmol (p = 0.001). The receiver operating characteristic (ROC) curves showed excellent discrimination (area under the curve 0.93). A UCPCR >= 0.22 nmol/mmol yielded a 96.3% sensitivity and an 85.7% specificity. The fasting C-peptide level in the T1DM group was lower than that in the MODY group (p = 0.001). The fasting C-peptide cutoff determined by ROC curve analysis was 0.62 ng/ml, with a sensitivity of 93% and a specificity of 90% for discriminating between MODY and T1DM. Conclusions: We showed that the UCPCR and fasting C-peptide levels in children and adolescents can distinguish patients with MODY from patients with T1DM with high specificity and sensitivity. A value of UCPCR >= 0.22 nmol/mmol may indicate further genetic testing for MODY. (C) 2015 S. Karger AG, Basel