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

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Erstveröffentlichung
2018-12-10
Wissenschaftlicher Artikel
Authors
Warncke, Katharina
Kummer, Sebastian
Raile, Klemens
Grulich-Henn, Jürgen
Wölfle, Joachim
Faculties
Medizinische FakultätInstitutions
Institut für Epidemiologie und Medizinische BiometrieExternal cooperations
Technische Universität MünchenHeinrich-Heine-Universität Düsseldorf
Charité – Universitätsmedizin Berlin
Universität Heidelberg
Rheinische Friedrich-Wilhelms-Universität Bonn
Published in
Journal of Clinical Endocrinology and Metabolism ; 104 (2019), 3. - S. 845-855. - ISSN 0021-972X. - eISSN 1945-7197
Link to original publication
https://dx.doi.org/10.1210/jc.2018-01696Peer review
ja
Document version
acceptedVersion
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.
Funding information
Deutsches Zentrum für Diabetesforschung (DZD) [82DZD0017G]
JDRF
The Leona M. and Harry B. Helmsley Charitable Trust
Deutsche Diabetes Gesellschaft (DDG)
Robert Koch Institut (RKI)
JDRF
The Leona M. and Harry B. Helmsley Charitable Trust
Deutsche Diabetes Gesellschaft (DDG)
Robert Koch Institut (RKI)
EU Project
INNODIA / Translational approaches to disease modifying therapy of type 1 diabetes: an innovative approach towards understanding and arresting type 1 diabetes - Sofia ref.: 115797 / EC / H2020 / 115797
Subject Headings
Diabetes mellitus [GND]Genmutation [GND]
Epidemiologie [GND]
Diabetes mellitus [MeSH]
Registries [MeSH]
Epidemiology [MeSH]
Keywords
diabetes; MODY 1; HNF4A; HNF1B; MODY 5; registryDewey Decimal Group
DDC 610 / Medicine & healthMetadata
Show full item recordCitation example
Warncke, Katharina et al. (2021): Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation): Analysis from the DPV database. Open Access Repositorium der Universität Ulm. http://dx.doi.org/10.18725/OPARU-35347
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