Registro Italiano Fibrosi Cistica : Rapporto 2011-2014 = Italian Cystic Fibrosis Registry : Report 2011-2014
Articolo
Data di Pubblicazione:
2018
Citazione:
Registro Italiano Fibrosi Cistica : Rapporto 2011-2014 = Italian Cystic Fibrosis Registry : Report 2011-2014 / B. Giordani, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, L. Minicucci, R. Padoan, G. Floridia, G.P. Fornaro, D. Taruscio, M. Salvatore, C. Albera, A. Angiolillo, B.M. Assael, E. Baldo, F. Battistini, C. Bena, M.G. Bernardi, S. Bertasi, E. Bignamini, A. Bisogno, C. Braggion, L. Cannata, A. Carnicella, V. Carnovale, M.A. Ciciretti, N. Cirilli, M. Collura, C. Colombo, S. Cucchiara, M. Di Sabatino, E. Di Stefano, F. Ficili, M. Francalanci, R. Gagliardini, P. Iansa, C. Laezza, M. La Rosa, S. Leonardi, M.C. Lucanto, V. Lucidi, A.M. Macchiaroli, G. Magazzù, A. Manca, D. Mascotto, V. Mencarini, P. Moretti, A. Negri, N. Palladino, E. Pintani, G. Pisano, G. Pisi, G. Pizzamiglio, F. Poli, V. Raia, L. Ratclif, M. Ros, N. Rotolo, D. Salvatore, C. Spaggiari, T. Tonelli, G. Tuccio, L. Zavataro. - In: EPIDEMIOLOGIA E PREVENZIONE. - ISSN 1120-9763. - 42:1 S1(2018 Feb), pp. 1-32. [10.19191/EP18.1-S1.P001.001]
Abstract:
INTRODUCTION
The Italian Cystic Fibrosis Registry (ICFR) is based on a new agreement about the data flow towards the Registry signed on October, 4th 2016 by the Centre for Rare Diseases of the Italian National Institute of Health (NIH), the clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, the Paediatric Hospital "Bambino Gesu" (Rome), the Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis.
OBJECTIVES
The aim of the present Report is to improve the knowledge on cystic fibrosis (CF) through the epidemiological description of Italian patients.
The members of the Scientific and Technical Committee have to write a report on data collected by ICFR, in order to contribute to achieve the aims of ICFR itself, i.e., to improve the care of CF patients. In particular, the Report should contribute to the following objectives:
to analyze the medium and long-term clinical and epidemiological trends of the disease;
to identify the main healthcare needs at regional and national level in order to contribute to the healthcare programmes and to the distribution of resources;
to compare Italian data with the international ones.
DESIGN
Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral and Support Centres for Cystic Fibrosis in the period 2011-2014. Data were sent by Centres by means of a specific software (Camilla, Ibis Informatica) and has undergone a double quality control (QC): the first by NIH and the second at a European level (before the inclusion of the Italian data within the European Cystic Fibrosis Registry). These QCs assure the completeness and accuracy of data as well as their consistency with European core data.
SETTING AND PARTICIPANTS
A total of 29 different CF centres (referral, support, and Paediatric Hospital "Bambino Gesu") sent their data to ICFR; data referred to the period 2011-2014. Data regarding Sardinia Region (Southern Italy) are missing; data from Molise (Southern Italy) CF centre refer only to 2014.
RESULTS
The present Report has been organized into 10 sections.
1. Demography: number of Italian patients with cystic fibrosis (CF) in 2014 was 4,981 and their median age was 20.4 years; estimated 2014 CF prevalence was 8.2/100,000 residents in Italy; on average, 52.1% of the patients were male and CF distribution showed higher frequency in patients aged from 7 to 35 years. On average, 53.7% of CF patients are aged more than 18 years.
2. Diagnoses: most of the CF patients were diagnosed before two years of age (around 66%); a significant proportion of patients (on average, 12%) was diagnosed in adult age.
3. New diagnoses: new diagnoses were 187 in 2011, 200 in 2012, 160 in 2013, and 135 in 2014. Estimated incidence was 1/4,052 live births in 2011; 1/4,313 in 2012; 1/5,189 in 2013 and 1/8,243 in 2014.
4. Genetics: 99.5% of patients was studied at the molecular level, with identification of 90.1% of Cystic Fibrosis Transmembrane Regulator CFTR mutations; [delta] 508F was the most frequent mutation (44.8% in 2014).
5. Lung function: FEV 1 (Forced Expiratory Volume in the first second) scores progressively decreased shortly before the start of adult age, in accordance with the natural history of the disease. Most of the patients between 6 and 17 years of age reported a FEV 1 % >= 70% of the predicted value, while the proportion of patients with severe lung disease (FEV 1 % < 40% of the predicted value) is < 2% over the period 2011-2014.
6. Nutrition: most critical periods come out during the first 6 months of life and during adolescence. Prevalence of malnourished male aged 12-17 years decreases over the period 20112014; an in
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
adolescent; adult; aged; aged, 80 and over; child; child, preschool; cystic fibrosis; female; humans; infant; italy; male; middle aged; registries; time factors; young adult
Elenco autori:
B. Giordani, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, L. Minicucci, R. Padoan, G. Floridia, G.P. Fornaro, D. Taruscio, M. Salvatore, C. Albera, A. Angiolillo, B.M. Assael, E. Baldo, F. Battistini, C. Bena, M.G. Bernardi, S. Bertasi, E. Bignamini, A. Bisogno, C. Braggion, L. Cannata, A. Carnicella, V. Carnovale, M.A. Ciciretti, N. Cirilli, M. Collura, C. Colombo, S. Cucchiara, M. Di Sabatino, E. Di Stefano, F. Ficili, M. Francalanci, R. Gagliardini, P. Iansa, C. Laezza, M. La Rosa, S. Leonardi, M.C. Lucanto, V. Lucidi, A.M. Macchiaroli, G. Magazzù, A. Manca, D. Mascotto, V. Mencarini, P. Moretti, A. Negri, N. Palladino, E. Pintani, G. Pisano, G. Pisi, G. Pizzamiglio, F. Poli, V. Raia, L. Ratclif, M. Ros, N. Rotolo, D. Salvatore, C. Spaggiari, T. Tonelli, G. Tuccio, L. Zavataro
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