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

Abstract

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 (p<0.05 and p<0.01 vs. T2D). At the most recent visit, glycated hemoglobin levels were lower in HNF4A- and HNF1B-MODY compared to T1D (mean, 6.5% and 6.1%) than in T1D. In 40% of patients with HNF1B-MODY, extrapancreatic symptoms were reported. Several clinical predictors previously described to differentiate between MODY and T1D or T2D could be revalidated by logistic regression analyses in this cohort.Conclusion The DPV registry enabled us to precisely characterize phenotype and treatment in these two rare MODY types. Although phenotype of HNF4A-and HNF1B-MODY shows distinct differences to T1D and T2D, 38% of patients were initially misclassified as having T1D or T2D