ECE2021 Audio Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (223 abstracts)
Diabetes and cftr gene mutations: Prevalence and correlation in patients with cystic fibrosis
Mireia García-Ramírez 1 , Ángel Rebollo-Román 1 , Paloma Moreno-Moreno 1 , Carlos-Manuel Alzás-Teomiro 1; José-Manuel Vaquero-Barrios & Alfonso Calañas-Continente 1
1Unidad de Gestión Clínica de Endocrinología y Nutrición, Hospital Universitario Reina Sofía de Córdoba, Córdoba, Spain; 2Unidad de Gestión Clínica de Neumología. Hospital Universitario Reina Sofía. Córdoba. Spain
Aim
To establish a relationship between the severity associated with cystic fibrosis transmembrane conductance regulator protein (CFTR) mutations and the prevalence of abnormal glucose tolerance and diabetes in patients diagnosed with cystic fibrosis (CF).
Methods
Observational, cross-sectional, clinical research in patients with CF evaluated at Hospital Universitario Reina Sofía (Córdoba).
Results
29 patients were selected for the study. Age: 34.41 ± 8.95 years, with a CF evolution time of 26.22 ± 10.43 years. 55% women. 72.41% of patients had two severe mutations (class I, II and III mutations) while the remaining 27.59% had at least one mild mutation (class IV and V mutations). After the oral 75g-glucose test (OGTT) 17.2 % patients were diagnosed with cystic-fibrosis related diabetes (CFRD), 41.4% with impaired glucose tolerance (IGT) and 41.4% showed a normal glucose tolerance. 66.7% of patients with two severe mutations were diagnosed with CFRD or IGT, compared to 37.5% of patients diagnosed with CFRD or IGT who had at least one mild mutation (P < 0.001).
Conclusions
In our series, there are statistically significant differences in the prevalence of CFRD and IGT depending on the type of mutations in the CFTR protein, with a higher prevalence in those patients with severe genotype.
Keywords: diabetes, cystic fibrosis, genotype, complications
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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