Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation) - Analysis from the DPV database

Objective. To characterize initial presentation and clinical course of patients with hepatocyte nuclear factor (HNF) 4A- and HNF1B-MODY in a multinational registry. Design, setting and participants. Within the Diabetes Patienten Verlaufsdokumentation (DPV) registry, 44 patients with HNF4A- and 35 patients with HNF1B-MODY were characterized and compared with patients < 20years old with type 1 diabetes (T1D)/type 2 diabetes (T2D).
Main outcome measure. Clinical and laboratory parameters, therapy, metabolic control, and extrapancreatic symptoms in patients with HNF1B-MODY.
Results. Patients with both MODY types were significantly older than T1D patients at diagnosis (HNF4A, 13.8 years and HNF1B, 13.5 years, vs. T1D, 8.8 years, P<0.0001). Mean C-peptide at diagnosis was higher for HNF4A-MODY than for T1D (1.8 vs. 0.9 ng/ml, P <0.01). 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY were treated with insulin, 20.5% and 8.6% received oral antidiabetics only...