[Cystic fibrosis in a woman aged seventy]. / Cystische fibrose bij een vrouw van 70 jaar.

A seventy-year-old woman was admitted to hospital with a Staphylococcus aureus respiratory tract infection. She had a history of extensive bronchiectasis and allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis (CF) was suspected and cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis showed F508del and R117H-7T mutations. In these mutations there is residual activity in the chloride channel in the cell membrane coded by the CFTR gene. This results in a much milder disease pattern varying from no disease at all to isolated organ disease. This type of disease is known as non-classical cystic fibrosis. In our patient the diagnosis of cystic fibrosis was made exceptionally late in life.

Self-reported use of vitamins and other nutritional supplements in adult patients with cystic fibrosis. Is daily practice in concordance with recommendations?

BACKGROUND: In cystic fibrosis (CF), prophylactic supplementation of the fat-soluble vitamins A, D, E, and K is recommended. Limited data is available describing vitamin prescription adherence by adult patients. The aim of this study was to assess the use of prescribed vitamins and other nutritional supplements by adult CF patients. METHODS: All adult CF patients (n=111) registered at the Utrecht CF Center were invited to participate in a telephone survey on supplement use. Supplemental vitamin intakes were compared with recommendations. In a subsample, associations between supplemental intake and serum vitamin D and E values were assessed. RESULTS: In this study 80% of the patients reported the use of vitamin and/or mineral supplements. Fat-soluble vitamins were used by 43% of pancreatic-sufficient (PS) and 81% of pancreatic-insufficient (PI) patients. Of PI patients reporting supplemental vitamin use, only 9% met the recommendations for vitamin A, 32% for vitamin D, 59% for vitamin E, and 81% for vitamin K. Multivitamin supplements were used by 42% of PI and by 29% of PS patients. Other nutritional supplements were rarely used. CONCLUSION: A high percentage of PI patients use fat-soluble vitamins below recommendations. Therefore adequate monitoring of vitamin supplementation and status is warranted.

Pseudomonas aeruginosa genotype prevalence in Dutch cystic fibrosis patients and age dependency of colonization by various P. aeruginosa sequence types.

The patient-to-patient transmission of highly prevalent Pseudomonas aeruginosa clones which are associated with enhanced disease progression has led to strict segregation policies for cystic fibrosis (CF) patients in many countries. However, little is known about the population structure of P. aeruginosa among CF patients. The aim of the present cross-sectional study was to determine the prevalence and genetic relatedness of P. aeruginosa isolates from CF patients who visited two major CF centers in The Netherlands in 2007 and 2008. These patients represented 45% of the Dutch CF population. P. aeruginosa carriage in the respiratory tract was determined by standard microbiological culture techniques, and all phenotypically different isolates in the first specimens recovered in 2007 and 2008 were genotyped by multilocus sequence typing. A total of 313 (57%) of 551 patients whose samples were cultured carried P. aeruginosa. Two sequence types (STs), ST406 and ST497, were found in 15% and 5% of the patients, respectively, and 60% of the patients harbored a strain that was also found in at least two other patients. The risk ratios for carrying ST406 and ST497 were 17.8 (95% confidence interval [CI], 7.2 to 43.6) for those aged between 15 and 24 years and 6 (95% CI, 1.4 to 26.1) for those aged >25 years. ST406 and ST497 were not genetically linked to previously described epidemic clones, which were also not found in this CF population. The population structure of P. aeruginosa in Dutch CF patients is characterized by the presence of two prevalent STs that are associated with certain age groups and that are not genetically linked to previously described epidemic clones.

Outcome of assisted ventilation for acute respiratory failure in cystic fibrosis.

OBJECTIVES: To assess outcome of assisted ventilation in cystic fibrosis (CF) patients with acute respiratory failure (ARF), to identify risk factors associated with poor outcome and to compare long-term outcome of CF children who were mechanically ventilated for ARF with unventilated CF controls. DESIGN: Retrospective cohort study. SETTING: Two large CF centres in the Netherlands. PATIENTS: CF patients who required assisted ventilation for ARF and unventilated CF controls. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Thirty-one CF patients required assisted ventilation for ARF between January 1990 and March 2005. All five children (under 2 years of age) and seven adults (27%) survived. In the total population, age was a statistically significant risk factor for poor outcome (p=0.02). In adult CF patients who required invasive mechanical ventilation, acute on chronic respiratory failure was associated with poor outcome. In children who required mechanical ventilation for ARF, lung function and CF related complications 5 years later were not significantly different compared with controls matched for age, gender and genotype. CONCLUSIONS: CF patients younger than 2 years old, who are ventilated because of ARF, have a good prognosis and their long-term outcome seems identical to unventilated CF controls. ARF in adult CF patients still is associated with high mortality, especially among patients with acute on chronic respiratory failure.

Assessment of nutritional status in adult patients with cystic fibrosis: whole-body bioimpedance vs body mass index, skinfolds, and leg-to-leg bioimpedance.

OBJECTIVE: To investigate whether body mass index (BMI) or body fat percentage estimated from BMI, skinfolds, or leg-to-leg bioimpedance are good indicators of nutritional status in adult patients with cystic fibrosis. Body fat percentage measured by whole-body bioimpedance was used as the reference method. DESIGN: Cross-sectional study using four methods to estimate body fat percentage. All patients filled out a food frequency and a physical activity questionnaire for assessment of their habitual food intake and energy requirements, respectively. SUBJECTS/SETTING: Thirty-five adult patients (23 men/12 women) with cystic fibrosis, age range 18 to 46 years, were measured during their yearly visit at the outpatient clinic of the Cystic Fibrosis Center in Utrecht, the Netherlands. STATISTICAL ANALYSIS: Mean+/-standard deviation was calculated for all measurements and 95% confidence intervals for differences between methods. Bland-Altman plots were used to assess differences between the measures of body composition and Pearson correlation coefficients were calculated to determine the relationships between them, and between the energy requirements and the energy intakes. RESULTS: For men the whole-body body fat percentage reference was 14.1%+/-3.0, body fat percentage estimated from BMI was 15.8%+/-4.3, body fat percentage estimated from skinfolds was 8.6%+/-4.8, and body fat percentage estimated from leg-to-leg bioimpedance was 13.1%+/-4.9. For women the whole-body body fat percentage reference was 24.0%+/-5.9, body fat percentage estimated from BMI was 25.1%+/-4.0, body fat percentage estimated from skinfolds was 17.0%+/-4.8, and body fat percentage estimated from leg-to-leg bioimpedance was 25.0%+/-6.9. Body fat percentage estimated from BMI and body fat percentage estimated from skinfolds were significantly different from the reference value for body fat percentage (P <.05). The correlation coefficients between the reference body fat percentage and body fat percentage estimated from BMI, from skinfolds, and from leg-to-leg bioimpedance were all more than 0.72. In all but one patient, nutritional status was correctly assessed by BMI: those with a BMI less than 18.5 had body fat percentage less than 10% (men) or less than 20% (women). The mean energy intake of the men was 141% of the Recommended Dietary Allowance as proposed in European and Dutch guidelines. The mean energy intake of the women was 94% of the Recommended Dietary Allowance. CONCLUSIONS: A simple calculation of BMI is adequate to diagnose nutritional status in adult patients with cystic fibrosis. Bioimpedance measurements are only needed when nutritional therapy specifically focuses on lean body mass.