BackgroundThe aim of our study was to evaluate factors affecting cystic fibrosis (CF) patients’ health-related quality of life (HRQoL) and to assess the level of agreement on HRQol between children and their parents.MethodsFifty-nine patients (mean age: 14.03 ± 4.81 years) from 5 Hungarian CF centres completed the survey. HRQoL was measured using The Cystic Fibrosis Questionnaire-Revised (CFQ-R). Parents were asked to fill out a questionnaire about their smoking habits, educational level and history of chronic illness. Disease severity was assessed using the physician-reported Shwachman-Kulczycki (SK) score system. Spirometry, Body Mass Index (BMI) percentile (pc), hospitalisation and Pseudomonas aeruginosa (PA) infection were examined as physiologic parameters of CF, and the impact of these factors on HRQoL was assessed. A multivariate regression analysis was performed to identify the most important factors affecting HRQoL. The level of significance was set to 0.05.ResultsPassive smoking and parental educational level and chronic diseases status did not have a significant impact on the patients’ HRQoL (p > 0.05). Significantly lower SK scores and spirometry values were found in low BMI pc patients (p < 0.001), in hospitalised (p < 0.01) and in PA-infected patients (p < 0.01), than in the adequate-weight, non-hospitalised and PA culture-negative subgroup. Lower CFQ-R scores were detected in hospitalised patients than in non-hospitalised patients in their Physical functioning domain. PA-infected patients had HRQoL scores that were significantly worse in the Body image (p < 0.01) and Respiratory symptoms (p < 0.05) domains than the PA culture-negative patients. Patients with a low BMI pc (<25th BMI pc) had significantly lower scores in the Eating, Body image and Treatment burden domains, than the adequate-weight patients (>25th BMI pc) (p < 0.01). A strong child–parent agreement was found in the Physical functioning domain (r = 0.77, p < 0.01).ConclusionsPassive smoking, parental educational level and chronic diseases of parents do not affect the HRQoL of CF patients. In contrast, hospitalisation, PA infection and malnutrition have a significant and negative impact on patients’ HRQoL and the clinical severity of the disease. Parents and children were consistent in their scoring of symptoms and behaviours that were observable.

HE4 serum levels positively correlate with the overall severity of CF and the degree of pulmonary dysfunction. HE4 may thus be used as a novel inflammatory biomarker and possibly also as a measure of treatment efficacy in CF lung disease.

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Bone deficit is present in patients with CF who have never received steroid treatment. Delay of puberty, chronic inflammation, or genetic susceptibility might be responsible for this phenomenon which was found in patients who had never received steroids and who were in relatively good clinical state.

Major cause of death in patients with cystic fibrosis (CF) is colonization with Staphylococcus aureus and Pseudomonas aeruginosa. The wide phenotypic variation in CF patients suggests that genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene modify the disease. The 8.1 ancestral haplotype (8.1AH) in main histocompatibility complex is associated with alterations of the immune response. To study the influence of carriage of 8.1AH on frequency and onset of colonization in CF patients, DNA samples of 72 CF patients (39 homozygous and 33 heterozygous for DeltaF508) were genotyped for member alleles of the 8.1AH: HLA-DQB1*0201, HLA-DRB1*0301, receptor for advanced glycation end products (AGER) -429C, HSP70-2 -1267G (HSP70-2G) and tumor necrosis factor-alpha (TNF-alpha) -308A (TNF2). Colonization was verified by regular clinical and bacteriological screening. Frequency of colonization was significantly (P = 0.012) lower in the 8.1AH carriers; age, gender and DeltaF508 genotype-adjusted odds ratio to be colonized of the carriers versus non-carriers was 0.112 (0.024-0.520). According to survival analysis, patients with 8.1AH had significantly (P < 0.0001) longer colonization-free period compared with non-carriers. Our novel observations demonstrate that the 8.1AH is associated with delayed onset of colonization in CF, presumably by influencing defense mechanisms against infections.

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Patients with cystic fibrosis (CF) exhibit normal concentrations of sodium and chloride in spite of the disturbance of Cl- and Na+ transport in epithelial cells. To characterize compensatory mechanisms in the regulation of sodium homeostasis, erythrocytes of 13 CF patients were analysed for sodium-lithium counter-transport (SLC), Na+/K(+)-ATPase activity and intracellular sodium content. Values were compared to those of healthy controls. Patients with CF had normal serum sodium and chloride concentrations and renal excretions of these ions were within the physiological range. Intracellular sodium concentration was similar in the CF and the control group (6.8 +/- 2.2 vs 5.7 +/- 1.0 mmol/l RBCs). Red blood cells' SLC and Na+/ K(+)-ATPase activity were elevated in CF patients (381 +/- 106 mumol/h/l RBCs vs 281 +/- 64; p < 0.01) and (445 +/- 129 mumol ATP mg prot/h vs 322 +/- 84, p < 0.01). Our study demonstrates that transmembrane cation transport systems are highly activated in CF. The increased sodium transport may be part of a compensatory mechanism of sodium homeostasis in children with CF.

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