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PubMed2001

[Eicosanoid metabolism in peripheral blood cells in patients with cystic fibrosis].

BACKGROUND: The autosomal recessive inherited cystic fibrosis is the most common genetic disorder in white patients. Disturbances in the eicosanoid metabolism seem to play an important role in the pathogenesis of the disease. The present study shows examinations on the release of prostaglandin E2 (PGE2) and peptide leukotrienes (pLT) in peripheral blood cells. PATIENTS AND METHODS: In this respect heparinised blood samples of 10 cc were obtained from 25 patients with cystic fibrosis. The peripheral blood cells were separated from the remaining blood components. PGE2 and pLT were measured by a particularly developed sensitive enzyme immunoassay with specific monoclonal antibodies. Both the basal release of the metabolites and the concentrations after stimulation with arachidonic acid (AA) were explored. The control group consisted of 25 healthy individuals. RESULTS: A distinct elevation in the basal release of pLT compared to the control group was noticed. Further stimulation with AA could only be achieved to a remarkably smaller extent. In contrast to these findings no elevation of the basal release of PGE2 and no stimulative effect of AA could be detected. In general we observed a distinct shift in the eicosanoid metabolism in favour of pLT and their proinflammatory effects. CONCLUSIONS: The increased synthesis of pLT in patients with cystic fibrosis seems to play an important role in the pathogenesis of the disease. Future studies will have to proof, if we can achieve any improvement in the clinical courses in patients with cystic fibrosis using leukotriene receptor antagonists or 5-lipoxygenase inhibitors.

Adolescent↗

PubMedDate not supplied

Cystic fibrosis.

Explore the source record for details and available documents.

Causality↗

PubMed1995

Accidental intravenous administration of enteral feeds by a patient with cystic fibrosis.

Young adults with cystic fibrosis are actively encouraged to take increasing self-responsibility, both at home and in hospital, for their often complicated therapeutic regimens. Many patients manage both their intravenous antibiotics and overnight enteral feeds. In our unit strict training protocols are followed to ensure that patients fully understand, and can safely perform, any procedure for which they will subsequently be responsible. Nonetheless, a 21-year-old man with cystic fibrosis admitted for treatment of his acute respiratory deterioration inadvertently attached his disconnected nasogastric feeding line to his intravenous access site during the night. Approximately 500 ml of enteral feed was administered intravenously with subsequent fevers, rigors, tachycardia, and vomiting. This is the first report of the patient, rather then the medical staff, inadvertently connecting the enteral feeding line to the intravenous access site.

Journal Article↗

PubMedDate not supplied

[Kwashiorkor as early clinical manifestation in a baby with cystic fibrosis].

A case of cystic fibrosis in a baby presenting Kwashiorkor (edema, hypoalbuminemia and anemia ) is described. This is a very unusual presentation, easily attributed to unfavourable socio-economic conditions of the population, and classically considered a marker for severe pulmonary disease during the first year of life. Presence of severe pancreatic insufficiency is related to genotype delta F508 (homozygote) but colonization and early infection with Staphylococcus aureus and Pseudomonas aeruginosa in this baby requires further study. Cystic Fibrosis is the most frequent genetic disease among Caucasians, and early diagnosis has prognostic implications, agreed upon by all.

English Abstract↗

PubMed1983

Relative anemia and iron deficiency in cystic fibrosis.

Significant alterations in hemotologic function in cystic fibrosis are suggested by the observation that polycythemia is uncommon, even among cyanotic patients. To elucidate those factors that influence hematologic equilibrium, 39 stable patients with cystic fibrosis were evaluated with regard to hemoglobin, hematocrit, RBC indices, reticulocyte count, serum iron and total iron binding capacity, serum ferritin, vitamin E, and carboxyhemoglobin levels. Hemoglobin concentrations were below the 50th percentile for age in 90% of the patients, including the 23% who were cyanotic. Serum ferritin levels were below the mean for age in 85% and below 12 ng/mL in 33% of patients. Vitamin E levels were less than 5 micrograms/dL in 33%, indicating deficiency. Carboxyhemoglobin values were elevated in 64% of the patients. These data indicate that relative anemia is common in cystic fibrosis and suggest that iron and vitamin E deficiency may contribute to that anemia. Twenty-two patients with cystic fibrosis were then given 2 weeks of oral iron therapy followed by two to three additional weeks of iron and vitamin E. This therapeutic trial resulted in an increase in mean hemoglobin concentration from 13.87 to 14.50 g/dL (P less than 0.01) associated with a significant increase in levels of serum ferritin (P less than 0.001). The increase in hemoglobin occurred primarily during the second 2 weeks when patients were receiving both iron and vitamin E. However, we were unable to document evidence of increased hemolysis when patients were receiving iron therapy alone. This response to oral iron therapy is confirmation that iron deficiency contributes to the failure of some patients with cystic fibrosis to compensate hemotologically for hypoxia.

Adolescent↗

PubMed1991

Measurement of intracellular mediators in enterocytes isolated from jejunal biopsy specimens of control and cystic fibrosis patients.

A method that maximises the yield of viable enterocytes has been developed for the isolation of enterocytes from human jejunal biopsy specimens. These enterocytes have been used to study the values of intracellular free calcium and the rises in adenosine 3'5'-cyclic monophosphate (cAMP) induced by secretagogues in normal and cystic fibrosis cells. Basal intracellular free calcium of cystic fibrosis enterocytes, measured fluorimetrically with fura-2, was within the range of the basal intracellular free calcium of non-cystic fibrosis enterocytes (cystic fibrosis 263 nmol/l; non-cystic fibrosis 287 nmol/l). Changes in intracellular free calcium were observed after exposure to ionomycin: a 100 nmol/l solution induced a 2.5 fold increase in intracellular free calcium in the cystic fibrosis enterocytes and a 2.2 fold increase in the intracellular free calcium concentration of the non-cystic fibrosis enterocytes. Basal cAMP values were not significantly different between cystic fibrosis and non-cystic fibrosis enterocytes (cystic fibrosis 575 fmol/100,000 cells; non-cystic fibrosis 716 fmol/100,000 cells, p greater than 0.05) and the enterocyte cAMP value increased in response to stimulation with prostaglandin E2 (7 mumol/l) (cystic fibrosis 2.2 fold increase over basal, p less than 0.05; non-cystic fibrosis 1.9 fold stimulation over basal, p less than 0.05) and vasoactive intestinal polypeptide (100 nmol/l) (cystic fibrosis 7.1 fold increase over basal, p less than 0.05; non-cystic fibrosis 5.8 fold increase over basal, p less than 0.05). There was no significant difference in the magnitude of the response between cystic fibrosis and non-cystic fibrosis enterocytes (p greater than 0.05). These results indicate that the cystic fibrosis defect in the small intestine, as in other affected epithelia, seems to be distal to the production of second messengers. The small intestine is therefore an appropriate model in which to study the biochemical defect in cystic fibrosis.

Animals↗

PubMed2004

A low prevalence of cystic fibrosis in Uruguayans of mainly European descent.

Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, with a low rate of miscegenation and no remaining isolated Amerindian groups. In the present study, we estimated the prevalence of cystic fibrosis in this country based on the detection of DeltaF508 mutation carriers in 500 unrelated individuals and on the frequency of individuals homozygous for this mutation within the affected population. The latter was calculated from the frequency of the different mutations and genotypes observed in a sample of 52 previously described patients with confirmed cystic fibrosis. A theoretical estimate of the prevalence of cystic fibrosis based on anthropological data suggested a frequency of 25 affected individuals/100,000 inhabitants. However, our data indicated that the true prevalence in the population was considerably lower (6.9 cases/100,000 inhabitants).

Cystic Fibrosis↗

PubMed1987

Are lymphocyte beta-adrenoceptors altered in patients with cystic fibrosis?

1. Beta-adrenergic responsiveness may be decreased in cystic fibrosis. In order to determine whether this reflects an alteration in the human lymphocyte beta-receptor complex, we studied 12 subjects with cystic fibrosis (six were stable and ambulatory and six were decompensated, hospitalized) as compared with 12 normal controls. 2. Lymphocyte beta-receptor mediated adenylate cyclase activity (EC 4.6.1.1) was not decreased in the ambulatory cystic fibrosis patients as compared with controls. In contrast, decompensated hospitalized cystic fibrosis patients demonstrated a significant reduction in beta-receptor mediated lymphocyte adenylate cyclase activity expressed as the relative increase over basal levels stimulated by the beta-agonist isoprenaline compared with both normal controls and stable ambulatory cystic fibrosis patients (control 58 +/- 4%; ambulatory cystic fibrosis patients 51 +/- 7%; decompensated hospitalized cystic fibrosis patients 28 +/- 5%; P less than 0.05). 3. Our data suggest that defects in lymphocyte beta-receptor properties in cystic fibrosis patients may be better correlated with clinical status than with presence or absence of the disease state.

Adenylyl Cyclases↗

PubMed1991

Neonatal hepatitis syndrome with paucity of interlobular bile ducts in cystic fibrosis.

A male infant presenting with neonatal hepatitis syndrome, characterized by conjugated hyperbilirubinemia and very mild liver function test abnormalities, at 2 weeks of age was found to have no excretion of radioisotope into the intestinal tract on hepatobiliary scan. Liver biopsy revealed severe interlobular bile duct paucity. Other features of Alagille's syndrome were not present; other conditions frequently associated with interlobular bile duct paucity were also excluded. Subsequently, the infant was found to have cystic fibrosis. Cystic fibrosis is thus another disease that may be associated with paucity of interlobular bile ducts presenting as neonatal hepatitis syndrome, and this represents a different pathogenesis of cholestatic jaundice in neonates with cystic fibrosis besides those previously recognized.

Alkaline Phosphatase↗

PubMed1997

Functional expression and apical localization of the cystic fibrosis transmembrane conductance regulator in MDCK I cells.

The gene product affected in cystic fibrosis, the cystic fibrosis transmembrane conductance regulator (CFTR), is a chlorideselective ion channel that is regulated by cAMP-dependent protein kinase-mediated phosphorylation, ATP binding and ATP hydrolysis. Mutations in the CFTR gene may result in cystic fibrosis characterized by severe pathology (e.g. recurrent pulmonary infection, male infertility and pancreatic insufficiency) involving organs expressing the CFTR. Interestingly, in the kidney, where expression of the CFTR has been reported, impaired ion transport in patients suffering from cystic fibrosis could not be observed. To understand the role of the CFTR in chloride transport in the kidney, we attempted to identify an epithelial cell line that can serve as a model. We demonstrate that the CFTR is expressed constitutively in Madine-Darby canine kidney (MDCK) type I cells, which are thought to have originated from the distal tubule of the dog nephron. We show expression at the mRNA level, using reverse transcriptase-PCR, and at the protein level, using Western blot analysis with three different monoclonal antibodies. Iodide efflux measurements indicate that CFTR expression confers a plasma membrane anion conductance that is responsive to stimulation by cAMP. The cAMP-stimulated iodide release is sensitive to glybenclamide, diphenylamine carboxylic acid and 5-nitro-2-(3-phenylpropylamino)benzoic acid, but not to 4,4'-di-isothiocyanostilbene-2,2'-disulphonic acid, an inhibitor profile characteristic of the CFTR chloride channel. Finally, the polarized localization of the CFTR to the apical plasma membrane was established by iodide efflux measurements and cell-surface biotinylation on MDCK I monolayers. Interestingly, MDCK type II cells, which are thought to have originated from the proximal tubule of the kidney, lack CFTR protein expression and cAMP-stimulated chloride conductance. In conclusion, we propose that MDCK type I and II cells can serve as convenient model systems to study the physiological role and differential expression of CFTR in the distal and proximal tubule respectively.

Animals↗

PubMed2003

Left ventricular diastolic function in patients with advanced cystic fibrosis.

OBJECTIVES: To assess left ventricular systolic and diastolic function in adult patients with cystic fibrosis using radionuclide ventriculography. BACKGROUND: Although myocardial fibrosis has been described in autopsy specimens of patients with cystic fibrosis, the possibility that myocardial dysfunction may occur during life in adult patients with cystic fibrosis has not been explored. METHODS: To assess the possibility of cardiac dysfunction occurring in cystic fibrosis, we studied 40 patients with advanced cystic fibrosis with first-pass radionuclide ventriculography and compared them to 9 patients with advanced bronchiectasis and 18 normal control subjects. RESULTS: Indexes of right ventricular systolic function were similarly impaired in patients with cystic fibrosis and patients with bronchiectasis. Left ventricular ejection fraction of patients with cystic fibrosis, patients with bronchiectasis, and normal control subjects did not differ. Fractional left ventricular filling at 50% of diastole, an index of diastolic function, was significantly lower in patients with cystic fibrosis (54 +/- 13%, mean +/- SD) in comparison to patients with bronchiectasis (66 +/- 4%, p = 0.009) or normal control subjects (69 +/- 14, p = 0.0002). The contribution of atrial systole to total diastolic left ventricular filling was greater in patients with cystic fibrosis (38 +/- 18%) than in patients with bronchiectasis (21 +/- 4%, p = 0.01) or normal control subjects (25 +/- 12%, p = 0.01). CONCLUSIONS: Patients with advanced cystic fibrosis demonstrate impaired left ventricular distensibility when compared to normal control subjects and patients with bronchiectasis. Patients with cystic fibrosis may be at risk of heart failure due to right ventricular dysfunction or left ventricular diastolic dysfunction.

Adult↗

PubMed1977

Abnormal biliary lipid composition in cystic fibrosis. Effect of pancreatic enzymes.

Because of the increased incidence of gallstones in cystic fibrosis we compared biliary lipid composition in 26 patients with cystic fibrosis, seven children with cholelithiasis but no cystic-fibrosis and 13 controls. Eighteen of the cystic fibrosis group had cholecystograms, and only one had gallstones. In 14 patients with cystic fibrosis who had stopped taking pancreatic enzymes for one week molar percentage of lipid composition accounted for by cholesterol (mean +/- S.E., 16.3 +/- 2.9) and saturation index (2.0 +/- 0.3) were comparable to values of the cholelithiasis group and higher (P less than 0.01) than those of controls. In 12 patients with cystic fibrosis taking pancreatic enzymes, molar percentage of cholesterol (8.6 +/- 1.7) and saturation index (1.0 +/- 0.1) did not differ from those of controls; in cystic fibrosis there was a preponderance of cholic over chenodeoxycholic acid both off (1.7 +/- 0.2) and on (1.9 +/- 0.3) therapy as compared to the cholelithiasis (0.7 +/- 0.1) and control (0.8 +/- 0.0) groups. The glycine/taurine ratio of conjugated bile acids were lower in enzyme-treated patients with cystic fibrosis (3.7 +/- 0.6) than in patients off treatment (6.4 +/- 1.0), but was higher (P less than 0.01) than in controls (1.8 +/- 0.2). Bile is lithogenic in untreated cystic fibrosis and responds to pancreatic enzymes.

Bile↗

PubMed1987

Antibiotic pharmacokinetics in cystic fibrosis. Differences and clinical significance.

Antibiotics are administered to cystic fibrosis patients for chronic endobronchial infection complicated by frequent exacerbations. Agents active against Staphylococcus aureus, Pseudomonas aeruginosa or both are administered. Serum antibiotic concentrations were measured in cystic fibrosis patients in an effort to optimise antibiotic dose and frequency. This led to the observation that cystic fibrosis subjects had (in general) a larger Vd and increased total body clearance of beta-lactams and aminoglycosides than non-cystic fibrosis subjects. The larger Vd is mainly due to the increased amount of lean body mass per kg bodyweight, although increased tissue binding may also account for part of this. The increased total body clearance of beta-lactams appears to be due to increased renal elimination, particularly tubular secretion. Decreased tubular reabsorption and increased non-renal clearance contribute to the increased total body clearance of metabolised beta-lactams and aminoglycosides. However, the lack of concomitant controls in many studies make these generalisations tentative. The result of the apparent cystic fibrosis-specific differences is lower peak serum antibiotic concentrations, a smaller AUC, and a shorter elimination half-life than non-cystic fibrosis subjects. Since sputum (and bronchial mucosal) concentration is dependent on the peak serum concentration (and AUC), cystic fibrosis subjects require larger doses of most antibiotics more frequently. Newer quinolones may be an exception. Studies comparing the efficacy and safety of larger and more frequent antibiotic doses to conventional therapy are not available. Although it appears logical to mimic serum antibiotic concentrations found in non-cystic fibrosis subjects, the lack of information on the ideal sputum concentration versus time curve should temper our enthusiasm for cystic fibrosis-specific dosage regimens.

Anti-Bacterial Agents↗

PubMed1993

Gallbladder disease in patients with cystic fibrosis.

We retrospectively studied 18 patients with cystic fibrosis, who underwent surgery for gallbladder disease from 1975 to 1990. A long delay between the onset of symptoms and the diagnosis was noted (mean 8.7 months). This delay was attributed to masking of the symptoms of biliary disease by the malabsorption and pulmonary symptoms seen in this patient population. We do not recommend routine intraoperative cholangiography in patients with cystic fibrosis and gallbladder disease. Cystic fibrosis is a disease with progressive pulmonary deterioration. Cholecystectomy can be performed in these patients with relative safety if careful preoperative and postoperative care is provided. We recommend early operative intervention in the patient with gallbladder disease and cystic fibrosis.

Adolescent↗

PubMed1992

Diabetic ketoacidosis in cystic fibrosis.

OBJECTIVE: To differentiate the insulin-dependent glucose intolerance associated with cystic fibrosis from type I diabetes mellitus in patients with cystic fibrosis. DESIGN: Patient report. SETTING: Tertiary care referral center. PARTICIPANT: An 11-year-old boy with cystic fibrosis who developed diabetic ketoacidosis. MEASUREMENT/MAIN RESULT: Biochemical, immunologic, and molecular techniques were used to support the sporadic association of type I diabetes mellitus in a patient with cystic fibrosis. Cystic fibrosis was confirmed by sweat test and further supported by the demonstration of a heterozygous deletion of the F508 locus. Evidence for the diagnosis of type I diabetes mellitus was developed from the clinical presentation of diabetic ketoacidosis with hyperglycemia, ketonemia, and ketonuria. Immunologic evidence included the demonstration of anti-insulin antibodies. The demonstration of homozygous absence of aspartic acid at position 57 of the HLA DQ-beta chain placed this child at high risk of type I diabetes mellitus. CONCLUSION: The clinical presentation and the presence of immunologic and genetic markers characteristic of type I diabetes mellitus supports the concordance of cystic fibrosis and type I diabetes mellitus in this patient.

Cystic Fibrosis↗

PubMed1989

Operative therapy of gallbladder disease in patients with cystic fibrosis.

We retrospectively studied 20 patients with cystic fibrosis who underwent surgery for gallbladder disease from 1973 to 1986. A long delay between the onset of symptoms and the diagnosis was noted (mean 7.4 months). This delay was attributed to masking of the symptoms of biliary disease by the malabsorption and pulmonary symptoms seen in this patient population. There was a notable lack of common bile duct disease in our patients as well as in those reported in the literature. This may have been due to a combination of factors: the increased viscosity of the mucus, the small caliber of the gallbladder and ductal system, and the hypotonicity of the gallbladder. We do not recommend routine intraoperative cholangiography in patients with cystic fibrosis and gallbladder disease. Cystic fibrosis is a disease with progressive pulmonary deterioration. Cholecystectomy can be performed in these patients with relative safety if careful preoperative and postoperative care is provided. We recommend early operative intervention in the patient with gallbladder disease and cystic fibrosis.

Adolescent↗

PubMed1997

Essential fatty acid deficiency in well nourished young cystic fibrosis patients.

UNLABELLED: Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-energy malnutrition, this study assesses the plasma phospholipid fatty acid pattern in well nourished young cystic fibrosis subjects. Sixteen cystic fibrosis subjects aged 6.6-20.0 years were studied and compared to 16 healthy controls matched for gender, age and nutritional status. Plasma phospholipids were separated by thin layer chromatography and phospholipid fatty acid pattern was determined by gas liquid chromatography. Anthropometry and dual-energy X-ray absorptiometry showed that lean body mass, fat-free mass and fat mass were similar in the two groups. Nutritional inquiry showed higher ingestion of macronutrients by cystic fibrosis subjects than by controls. Plasma phospholipid palmitoleic acid and eicosatrienoic acid were higher, and by contrast linoleic acid and docosahexaenoic acid were lower in cystic fibrosis subjects than in controls. The ratio linoleic acid/arachidonic acid was lower and the ratio eicosatrienoic acid/arachidonic acid was higher in cystic fibrosis subjects than in controls. CONCLUSION: Essential fatty acid deficiency is present in young cystic fibrosis subjects in the absence of protein-energy malnutrition. It means that this deficiency is probably related to specific defects in fatty acid metabolism.

Adolescent↗

PubMed1995

Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis.

Previously the diagnosis of sex and cystic fibrosis status has been studied on single cells using the polymerase chain reaction (PCR). It has been suggested that allelic drop-out (PCR failure of one allele) and/or preferential amplification (hypo-amplification of one allele) may contribute to poor reliability and misdiagnosis, although this remains controversial as some reports suggest that allelic drop-out does not occur. We investigated an improved method of diagnosing sex and cystic fibrosis in single cells using a new technology (fluorescent PCR) to determine the base level of PCR artefacts (allelic drop-out and preferential amplification) which, in combination with improved sensitivity, should improve PCR reliability and accuracy. Fluorescent PCR gives high reliability (approximately 97%) and accuracy rates (approximately 97%) in somatic cells for both sex and cystic fibrosis diagnosis and its lower detection threshold allows allelic drop-out and preferential amplification to be easily distinguished. We also achieved high reliability and accuracy in diagnosing cystic fibrosis in human blastomeres. This study confirms earlier reports of both allelic drop-out and preferential amplification in single cell analysis. We demonstrate that both allelic drop-out and preferential amplification occur in somatic cells and suggest these are separate phenomena. Preferential amplification appeared common in single cell PCR while allelic drop-out apparently occurred at random in each allele. Preferential amplification was mainly amplification of the larger allele. We suggest that some inaccuracy/misdiagnosis may be due to both preferential amplification as well as allelic drop-out. Other findings were variability in drop-out between PCR and that amplification of signals from human blastomeres may be linked to embryo quality. We suggest that allelic drop-out is dependent on the number of cells within the sample.

Alleles↗