The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

Diagnostics

Rita Padoan¹  Vincenzo Carnovale²  Giuseppe Campagna²  Donatello Salvatore²  Marco Salvatore²  Serena Quattrucci²  Annalisa Amato³ 

[1] Department of Pediatrics, Regional Support Center for Cystic Fibrosis, Children’s Hospital–ASST Spedali Civili, University of Brescia, 25123 Brescia, Italy;Italian Cystic Fibrosis Registry, 00162 Rome, Italy;Italian League of Cystic Fibrosis–ONLUS, 00198 Rome, Italy;

关键词: cystic fibrosis;    epidemiology;    registry;    diagnosis;    adult diagnosis of cystic fibrosis;    CFTR gene;   

DOI  :  10.3390/diagnostics11020321

来源: DOAJ

【 摘 要 】

Cystic Fibrosis (CF) registries are an essential resource of epidemiological and clinical data. Although the median age at diagnosis is usually reported in the first months of life, a minority of individuals is diagnosed during adulthood. The aim of this study was to describe demographic, genetic, and clinical characteristics of this subgroup of the Italian CF population by using data from the Italian CF Registry (ICFR). Patients ≥18 years at diagnosis were selected and clinical data at diagnosis were analyzed from the 2012–2018 ICFR data (Cohort A). Subjects with diagnosis ≥18 years were selected from 2018 ICFR dataset (Cohort B) to describe their clinical status. In 2012–18 the incidence of late diagnosis was 18.2%, whereas, in 2018, the prevalence of patients diagnosed > 18 years was 12.54%. The median age of late diagnosis was 36.2 years, ranging from 19.0 to 68.3. The male patients were diagnosed because of infertility in the 45.9% of cases. Median sweat chloride value (SCL) was 69 mmol/L (range 9–150). F508del mutation accounted for 28.3% of alleles. A wide variability in respiratory function was present with a median percent predicted Forced Expiratory Volume in the first second (ppFEV₁) of 90.8% (range 20–147%). Low prevalence of pancreatic insufficiency (25%) and of Pseudomonas aeruginosa (Pa) infection (17%) suggest a mild CF phenotype in the majority of patients. The assessment of the clinical status in the 2018 dataset and the comparison between genders showed a greater nutritional and respiratory impairment in females. Further studies are needed to clarify the importance of a true diagnostic delay or of late onset of CF symptoms.

【 授权许可】

Unknown