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We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+l0kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.
Background. Available data suggests that small intestine bacterial overgrowth (SIBO) may frequently occur in cystic fibrosis (CF) subjects. SIBO may result in synthesis of enterotoxic and unabsorbable metabolites which may cause mucosal damage and - additionally - interfere with digestion and absorption. Such a relationship was documented in CF mouse model. Therefore, in the present study we aimed to assess the influence of bacterial overgrowth in small intestine in CF patients on lipid digestion and absorption. Material and methods. The study Comprised 60 pancreatic insufficient CF patients, 30 children and 30 adults. Ali enrolled CF subjects were tested for the presence of SIBO using hydrogen/methane breath test with glucose loading. According to the obtained results CF patients were divided into SIBO positive and negative subgroups. Subsequently, 13C-labelled mixed triglyceride breath test was performed to assess lipid digestion and absorption. Cumulative percentage dose recovery (cPDR) was considered to reflect digestion and absorption of lipids. Results. SIBO was detected in 12 (40.0%) children and 11 (36.7%) adults with CF. The cPDR did not differ between SIBO positive and negative subgroups, neither when assessed separately for children (mean ±SEM: 5.5 ±0.8 vs. 7.4 ±1.0%) and adults (4.9 ±0.8 vs. 7.1 ±0.7%) nor for the entire studied population. Conclusions. Small intestine bacterial overgrowth does not seem to play a key role in lipid digestion and absorption in cystic fibrosis patients.
Antibiotic therapy in the cystic fibrosis (CF) mouse model has been shown to result in reduced bacterial load of the intestine and significant body mass gain. The effect was suggested to be linked to the improvement of intestinal digestion and absorption. Therefore, we aimed to assess the influence of routinely applied antibiotic therapy in CF patients on fat assimilation. Twenty-four CF patients aged 6 to 30 years entered the study. Inclusion criteria comprised confirmed exocrine pancreatic insufficiency and bronchopulmonary exacerbation demanding antibiotic therapy. Exclusion criteria comprised: antibiotic therapy six weeks prior to the test, liver cirrhosis, diabetes mellitus, oxygen dependency, the use of systemic corticosteroids. In all enrolled CF subjects, 13C-labelled mixed triglyceride breath test (13C MTG-BT) was performed to assess lipid digestion and absorption, before and after antibiotic therapy. Sixteen subjects were treated intravenously with ceftazidime and amikacin, eight patients orally with ciprofloxacin. Cumulative percentage dose recovery (CPDR) was considered to reflect digestion and absorption of lipids. The values are expressed as means (medians). The values of CPDR before and after antibiotic therapy did not differ in the whole studied group [4.6(3.3) % vs. 5.7(5.3) %, p = 0.100] as well as in the subgroup receiving them intravenously [4.6(3.2) % vs. 5.7(5.3) %, p = 0.327] or in that with oral drug administration [4.6(3.4) % vs. 5.7(5.4) %, p = 0.167]. In conclusion, antibiotic therapy applied routinely in the course of pulmonary exacerbation in CF patients does not seem to result in an improvement of fat digestion and absorption.
 Background: The coexistence of cystic fibrosis (CF) and celiac disease (CD) has been reported. To our knowledge there is no study directly comparing the incidence of CD in CF patients to that in the general population at the same time. There is no published data on genetic predisposition to CD in CF patients either. Therefore, in the present study we aimed to assess the genetic predisposition to CD and its incidence in CF patients comparing it to data from the general population. Patients and methods: Two hundred eighty-two CF patients were enrolled in the study. In 230 CF patients the genetic predisposition to CD (the presence of HLA-DQ2/ DQ8) was assessed. In all CF patients, serological screening for CD was conducted. In patients with positive antiendomysial antibodies (EMA) gastroduenoscopy was offered. Intestinal histology was classified according to modified Marsh criteria. The results of serological CD screening in 3235 Polish schoolchildren and HLA-DQ typing in 200 healthy subjects (HS) were used for comparison. Results: Positive EMA was found in 2.84 % of the studied CF patients. The incidence of proven CD was 2.13 %. The incidence of CD as well as positive serological screening were significantly more frequent in the CF group than in the general population. The frequency of CD-related HLA-DQ alleles in CF and HS did not differ. Conclusions: Genetic predisposition to celiac disease in cystic fibrosis patients is similar to that of the general population. However, our results suggest that cystic fibrosis is a risk factor for celiac disease development.
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