The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry
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, a...
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MDPI AG
2021-02-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/2/321 |
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| author | Rita Padoan Serena Quattrucci Annalisa Amato Vincenzo Carnovale Donatello Salvatore Marco Salvatore Giuseppe Campagna |
| author_facet | Rita Padoan Serena Quattrucci Annalisa Amato Vincenzo Carnovale Donatello Salvatore Marco Salvatore Giuseppe Campagna |
| author_sort | Rita Padoan |
| collection | DOAJ |
| description | 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). <i>F508del</i> 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 (ppFEV<sub>1</sub>) of 90.8% (range 20–147%). Low prevalence of pancreatic insufficiency (25%) and of <i>Pseudomonas aeruginosa</i> (<i>Pa</i>) 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. |
| first_indexed | 2024-03-09T00:49:58Z |
| format | Article |
| id | doaj.art-d856b24e5ade414599de7e93f43861ba |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T00:49:58Z |
| publishDate | 2021-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-d856b24e5ade414599de7e93f43861ba2023-12-11T17:18:18ZengMDPI AGDiagnostics2075-44182021-02-0111232110.3390/diagnostics11020321The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian RegistryRita Padoan0Serena Quattrucci1Annalisa Amato2Vincenzo Carnovale3Donatello Salvatore4Marco Salvatore5Giuseppe Campagna6Regional Support Center for Cystic Fibrosis, Department of Pediatrics, Children’s Hospital–ASST Spedali Civili, University of Brescia, 25123 Brescia, ItalyItalian Cystic Fibrosis Registry, 00162 Rome, ItalyItalian League of Cystic Fibrosis–ONLUS, 00198 Rome, ItalyItalian Cystic Fibrosis Registry, 00162 Rome, ItalyItalian Cystic Fibrosis Registry, 00162 Rome, ItalyItalian Cystic Fibrosis Registry, 00162 Rome, ItalyItalian Cystic Fibrosis Registry, 00162 Rome, ItalyCystic 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). <i>F508del</i> 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 (ppFEV<sub>1</sub>) of 90.8% (range 20–147%). Low prevalence of pancreatic insufficiency (25%) and of <i>Pseudomonas aeruginosa</i> (<i>Pa</i>) 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.https://www.mdpi.com/2075-4418/11/2/321cystic fibrosisepidemiologyregistrydiagnosisadult diagnosis of cystic fibrosisCFTR gene |
| spellingShingle | Rita Padoan Serena Quattrucci Annalisa Amato Vincenzo Carnovale Donatello Salvatore Marco Salvatore Giuseppe Campagna The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry Diagnostics cystic fibrosis epidemiology registry diagnosis adult diagnosis of cystic fibrosis CFTR gene |
| title | The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry |
| title_full | The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry |
| title_fullStr | The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry |
| title_full_unstemmed | The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry |
| title_short | The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry |
| title_sort | diagnosis of cystic fibrosis in adult age data from the italian registry |
| topic | cystic fibrosis epidemiology registry diagnosis adult diagnosis of cystic fibrosis CFTR gene |
| url | https://www.mdpi.com/2075-4418/11/2/321 |
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