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

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

J Clin Endocrinol Metab. 2018 Dec 10;:

Authors: Warncke K, Kummer S, Raile K, Grulich-Henn J, Woelfle J, Steichen E, Prinz N, Holl RW

Abstract
Objective: To characterize initial presentation and clinical course of patients with rare HNF4A- and HNF1B-MODY in a large multinational registry.
Design, setting and participants: Within the DPV (Diabetes Patienten Verlaufsdokumentation) registry, 44 patients with HNF4A- and 35 patients with HNF1B-MODY were characterized and compared to type 1 diabetes (T1D) / type 2 diabetes (T2D) in patients < 20 years.
Main outcome measure: Clinical and laboratory parameters, therapy, and quality of metabolic control, extrapancreatic symptoms in HNF1B-MODY patients.
Results: Patients with both MODY types were significantly older than T1D patients at time of 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 T1D (1.8 ng/ml vs. 0.9 ng/ml, p <0.01). 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY are treated with insulin, while 20.5% and 8.6% receive oral antidiabetics (OADs) only (p<0.05 and p<0.01 vs. T2D). At the most recent visit, HbA1c levels were lower in HNF4A and HNF1B-MODY compared to T1D (mean 6.5% and 6.1% vs 7.9% in T1D, p<0.0001). 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 population-based 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 are initially misclassified as T1D or T2D.

PMID: 30535056 [PubMed - as supplied by publisher]

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