Épidémiologie et physiopathologie de la mucoviscidose

Depuis la découverte du gène en 1989, il a été montré que les mutations du gène CFTR sont à I'origine d'une cascade d'événements cellulaires aboutissant à I'expression des symptômes de la maladie. Les scientifiques identifient progressivement ces événements afin de développer des stratégies thérapeutiques pour traiter I'origine de la maladie : thérapie génique et thérapie de la protéine et celles pour traiter les symptômes. L'amélioration des soins et I'organisation de la recherche clinique reposent en partie sur la connaissance des caractéristiques de la population atteinte de mucoviscidose. Le Registre français de la mucoviscidose (RFM) existe depuis 1992 et a identifié en 2005 plus de 4600 patients. Les analyses annuelles montrent une augmentation de I'espérance de vie à la naissance (46 ans), en parallèle avec une augmentation de la proportion d'adultes (40 %). Sur le plan microbiologique, si le taux de colonisation bronchique baisse pour le Burkholderia cepacia et les streptocoques (autres que S. pneumoniae), il est en hausse pour I'Aspergillus, le staphylocoque doré résistant à la méticilline et le Stenotrophomonas maltophilia. Cependant I'augmentation de I'espérance de vie s'accompagne de complications multiples liées à la maladie et les traitements mis en place dès le diagnostic restent Iourds et contraignants

Patient education for children with cystic fibrosis: feasibility and proposal of a specific longitudinal educational pathway, including group sessions

Introduction: Life expectancy in patients suffering from cystic fibrosis has very much increased. It can now be compared to diabetes, requiring a lot of time spent with treatments and special skills that need to be acquired by patients and families. Objectives: To promote structured therapeutic education in cystic fibrosis. Methods: Our Cystic Fibrosis (CF) center has proposed education since 2006, alternating individual and group sessions, organized from the initial diagnosis to transition from paediatric to adult care. During the group sessions, hygiene precautions are strictly enforced to avoid cross infection. Since 2006, in our cohort of 92 CF children, 24 parents of children under 6 and 37 children accompanied by one or two of their parents, attended group sessions. Results: Families appreciate this approach. Skills on self-management and anticipation are therefore increased. It has produced a good response from children and meets parents’ and caregivers’ expectations. Discussion: Health care givers have to develop structured therapeutic education to improve quality of life for patients and families. Conclusion: Our center organizes the training the other 48 centers for cystic fibrosis in France to help them implement individual or collectives educative sessions

Thoracoabdominal asynchrony and ratio of time to peak tidal expiratory flow over total expiratory time in adolescents with cystic fibrosis

Thoracoabdominal asynchrony (TAA) and the ratio of time to peak tidal expiratory flow over total expiratory time (TME/TE) have been used to assess airway obstruction in infants and adults. We obtained these measurements using calibrated respiratory inductance plethysmography (RIP) on 15 adolescents and young adults with cystic fibrosis (CF) and varying disease severity. The measurements were then compared to 15 normal age‐matched controls. TAA was expressed as a phase angle (ϕ) calculated from the abdominal (AB) and ribcage (RC) signals acquired from scalar strip chart recordings. Using CODAS (DATAQ Instruments, Akron, OH) software, the analog signals were digitized, and the differentiated sum (AB + RC) signal was used to calculate TME/TE. Forced vital capacity (FVC) and forced expiratory volume in 1 sec (FEV1) were obtained using RIP in all subjects. Subjects with CF had a significantly higher mean ϕ than the control subjects (15° vs. 8°, respectively, P = 0.01). In the CF patients the specificity of a high ϕ as an indicator of abnormality was 80%, while the sensitivity was 65%. There was no correlation in the magnitude of ϕ and disease severity as assessed by FVC or FEV1. There was no significant difference in TME/TE between the groups. We conclude that RIP‐acquired ϕ, but not TME/TE, is a simple and useful method to detect the presence of airway obstructive disease. We speculate that the sensitivity of this method will increase in younger patients with more compliant chest walls and less air trapping. Longitudinal studies of ϕ in infants and young children with lung disease could help in assessing disease severity and progression in this population, in whom repeated measures are few and complex. Pediatr Pulmonol. 1999; 28:199–204. © 1999 Wiley‐Liss, Inc

Long-term noninvasive ventilation in patients with cystic fibrosis

Background: The benefits of long-termnoninvasive positive pressure ventilation (NPPV) have not yet been evaluated in patients with cystic fibrosis (CF). Objectives: To evaluate the effect of 1 year of NPPV on lung function in patients with advanced CF. Methods: Data were obtained from the French CF Registry. Patients who started NPPV (ventilated group, n = 41) were compared to matched controls (control group, n = 41). Each ventilated patient was matched to a control 1 year before the start of NPPV (year –1) for gender, CFTR genotype, age ± 5 years and forced expiratory volume in 1 s (FEV1) ± 10%. The ventilated group was compared to the control group at year –1, during the year of NPPV initiation (year 0) and 1 year after NPPV (year +1). Results: At year –1, the two groups were comparable with regard to forced vital capacity (FVC; 43.7 vs. 49.1% in the ventilated group and the control group, respectively) and FEV1 (28.2 vs. 28.5%). At year 0, the ventilated group had significantly greater declines in FVC (–3.6 ± 9.2 vs. +0.8 ± 8.9%, p = 0.03) and in FEV1 (–3.0 ± 6.7 vs. +2.6 ± 4.4, p < 0.0001). At year +1, the decreases in FVC (–2.1 ± 10.0 vs. –2.2 ± 9.9%) and in FEV1 (–2.2 ± 6.7 vs. –2.3 ± 6.2%) were similar in both groups. Conclusions: These data show that NPPV is associated with stabilization of the decrease in lung function in patients with advanced CF