Diabetologie und Stoffwechsel 2015; 10 - P75
DOI: 10.1055/s-0035-1549581

Association of CFTR mutations with Cystic Fibrosis related Diabetes (CFRD) in Germany and Austria: a multicentre analysis from the DPV registry

K Laubner 1, N Scheuing 2, M Bauer 3, K Konrad 4, 5, E Lilienthal 6, N Lorenzen 7, T Poeplau 8, A Teeken 9, A Thon 10, J Seufert 1, RW Holl 2, M Schebek 11
  • 1Universitätsklinik Freiburg, Klinik für Innere Medizin II, Abteilung Endokrinologie und Diabetologie, Freiburg, Germany
  • 2Institute of Epidemiology and Medical Biometry, University of Ulm, German Center for Diabetes Research (DZD), Ulm, Germany
  • 3Gynecological and Children Hospital, Department of Children and Adolescent Medicine, Linz, Austria
  • 4Department of Pediatric and Adolescent Medicine, Elisabeth Hospital Essen, Essen, Germany
  • 5University of Cologne, Department of Pediatric and Adolescent Medicine, Cologne, Germany
  • 6Department of Pediatrics, University of Bochum, Bochum, Germany
  • 7Clinic for Pediatric and Adolescent Medicine, Städtisches Krankenhaus Kiel, Kiel, Germany
  • 8Department of Internal Medicine 1, Clemenshospital GmbH, Muenster, Muenster, Germany
  • 9Department of Pediatrics, University Hospital of Muenster, Muenster, Germany
  • 10Department of Pediatrics, Hannover Medical School, Hannover, Germany
  • 11Hospital Kassel, Clinic for Pediatric and Adolescent Medicine, Kassel, Germany

Background: CF-related diabetes (CFRD) is a common comorbidity in cystic fibrosis (CF) and associated with negative outcome and increased mortality. In this study, we aimed to investigate current demographics of CFRD and the association of CFRD with C transmembrane conductance regulator (CFTR) genotypes.

Methods: Until September 2014, data of 777 patients with CFRD were included in the DPV-registry. Since 2013 the participating centres document the type of CFTR mutation additionally to diabetes-related parameters. Of 105 patients the CFTR mutation was available. Descriptive statistics were carried out using SAS 9.4. χ2-test and Wilcoxon-test was applied for group comparisons.

Results: At analysis, patients with CFRD had a median age of 19.3 [IQR: 16.5 – 26.1] years. The median age at CFRD primary diagnosis was 16.0 [13.4 – 20.6] years. Gender were 58% female and 42% male. Low bodyweight (BMI< 19 kg/m2) was present in 49.2% of cases. The most common CF mutation 'F508del homozygote' was present in 75.5% of CFRD patients (80/105). Compared to the latest national CF benchmarking report from 2012, this mutation was more common in CFRD patients (p < 0.001). The F508del/R553X was the second most frequent mutation with 4.7% (5/105) and the F508del/394delTT the third most frequent mutation with 2.8% (3/105) in CFRD patients.

Conclusion: In CF patients, CFRD is diagnosed mainly at young adolescent age. The most common CF mutation 'F508del homozygote' also represents the key risk factor for the development of CFRD.