Data from: 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 (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.