Quittner, A. L., Buu, A., Messer, M. A., Modi, A.C., & Watrous, M. (2005). Development and validation of the cystic fibrosis questionnaire in the United States; a measure of health-related quality of life in cystic fibrosis. Brust, 128, 2347–2354. McCoy, K. S., Quittner, A. L., Oermann, C.M., Gibson, R. L., Retsch-Bogart, G.
Z., & Montgomery, A.B. (2008). Inhaled aztreonam lysine for chronic airways Pseudomonas aeruginosa in cystic fibrosis. Am J Respir Crit Care Med, 178, 921-928. This can happen if the parents are “carriers” of the defective gene, which means they don`t have cystic fibrosis themselves. In the UK, all newborns are screened for cystic fibrosis as part of the newborn blood spot test (heel prick test) performed shortly after birth. Farrell, P.M., et al. (2008). Guidelines for the Diagnosis of Cystic Fibrosis in Newborns in the Elderly: Cystic Fibrosis Foundation Consensus Report. J Pediatr, 153, S4–S14. There is no cure for cystic fibrosis, but a number of treatments can help control symptoms, prevent or reduce complications, and make the condition easier to live with. Make an appointment with your doctor if you or your child have any common signs or symptoms in cystic fibrosis.
In the years that followed, fundraising and engagement from the CF community enabled the foundation to support basic laboratory research, leading to groundbreaking discoveries, including the identification of the gene and protein responsible for cystic fibrosis. By expanding our knowledge of the underlying biology of the disease and its effects on the body, researchers have paved the way for the development of new treatments. These tests can also be used to diagnose cystic fibrosis in older children and adults who have not had the newborn test. The Lung Clearance Index (LCI), derived from the Multiple Respiratory Lavage (MBW) test, is an established research finding for people with cystic fibrosis (CF).1-3 The test involves tracking an inert gas that has been washed from the lungs during tidal breathing. Since CF is a multisystemic disease, prior to the introduction of CFTR modulators (CFTR), treatment included symptomatic treatment and treatment of pulmonary exacerbations and other complications by controlling respiratory infections and inflammation, mobilizing secretions to reduce airway obstruction, and correcting gastrointestinal symptoms and nutritional deficiencies caused by pancreatic insufficiency [12, 13,14,15]. The introduction of CFTR modulators allows treatment to move from reducing symptoms to fighting the underlying cause of the disease. With changes in the treatment landscape, a place is emerging for PATIENT-REPORTED (PRO) instruments for CF that capture the vast patient experience, which will be useful in understanding the full benefits of new therapies. The survey conducted for the qualitative study of multidisciplinary teams in the 14 centres is expected to include approximately 130 respondents, including a maximum of 14 patients/parents. This number of respondents may seem small because it has sufficient statistical significance in the statistical validation of survey tools, especially for the parts of the questionnaire developed as part of this research. Survey tools could be improved through future research studies aimed at, for example, comparing the quality of care between phare-M trained centres and centres not trained in the programme, or assessing the quality of care before/after another intervention. Therefore, this questionnaire represents a tool that could have other applications in the network. In a screening test, a blood sample is checked for higher-than-normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released from the pancreas.
A newborn`s IRT levels can be elevated due to a preterm birth or stressful delivery. For this reason, further tests may be needed to confirm a diagnosis of cystic fibrosis. Debeaupuis J, Penaud P (members of the French Directorate of Hospitalizations and Organization of Care [DHOS]). Decree of 12 April 2002 designating cystic fibrosis centres. Paris: Official Bulletin of the French Ministry of Employment and Solidarity No. 2002-16 [online]. 2002. Available at: www.sante.gouv.fr/fichiers/bo/2002/02-16/a0161471.htm. Retrieved 31 October 2014. Background The Pulmonary Clearance Index (CBI) is a valuable research tool in cystic fibrosis (CF), but clinical application has been limited by technical challenges and uncertainties in interpreting longitudinal changes. .