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PubMedDate not supplied

rhDNase in cystic fibrosis.

Cystic fibrosis (CF) affects approximately 1 in 2500 live births in the UK Caucasian population. Morbidity and mortality closely reflect the degree of pulmonary involvement. rhDNase is a new form of therapy in CF care. Phase 1, 2 and 3 trials have shown it to be well-tolerated, with patients showing initial increases in respiratory function of around 13% from baseline. A years prescription costs $7500. This review discusses our views on how this expensive new therapy can best be used.

Adolescent↗

PubMed1986

Bowel adenocarcinoma in a patient with cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive condition affecting one in 2,000 live births in the UK. There are few reports of malignant tumours in this condition probably because, until recently, the majority died before the age of 30 years as a result of recurrent and chronic bronchopulmonary infection with impaired growth and development and resistance to infection due to pancreatic malabsorption. We describe an adult male with CF who died from an adenocarcinoma affecting the ileocaecal region of the bowel.

Adenocarcinoma↗

PubMed2000

Macrolide antibiotics for cystic fibrosis.

BACKGROUND: Cystic Fibrosis is characterised by chest infection, the antibiotic treatment of which has significantly improved the outlook for people with this condition. The unusual nature of organisms that infect the chest of individuals with cystic fibrosis has restricted antibiotic choice. In particular the bacteria, Pseudomonas aeruginosa, is resistant to nearly all antibiotics that can be taken by mouth. There is laboratory evidence and evidence from other disease processes that macrolide antibiotics, whilst not directly active against Pseudomonas aeruginosa, may have indirect actions against this bacteria. OBJECTIVES: This review aimed to test the hypotheses that macrolide antibiotics; 1) Improve clinical status compared to placebo or another antibiotic 2) do not have unacceptable adverse effects If benefit was demonstrated, we aimed to assess the optimal type, dose and duration of macrolide therapy. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. In addition, Principal Investigators, known to work in the field and previous authors were contacted for unpublished or follow up data. Pharmaceutical companies, that manufacture macrolide antibiotics, were approached. SELECTION CRITERIA: Randomised controlled trials, published or unpublished, of macrolide compared to placebo, another class of antibiotic or another macrolide. Studies which compare regimes of the same macrolide at different doses will also be included. DATA COLLECTION AND ANALYSIS: No completed randomised controlled trials were identified. MAIN RESULTS: Three open studies excluded. Four ongoing randomised controlled trials were identified. No completed randomised controlled trials were identified. REVIEWER'S CONCLUSIONS: At present, there are no randomised controlled trials to evaluate the use of macrolide antibiotics for the treatment of chest infection in people with cystic fibrosis. Such trials, with clear outcome measures, are needed to properly evaluate this potentially useful treatment for cystic fibrosis.

Anti-Bacterial Agents↗

PubMed1977

Serum complement depression during viral lower respiratory tract illness in cystic fibrosis.

Cystic fibrosis (CF) patients with viral lower respiratory tract illnesses (LRI) had depressed levels of the third and fourth components of complement, which returned to normal after recovery. There was no clinical evidence of immune complex disease. CF patients with LRI and no virus isolates, CF patients in stable status, and non-CF patients with LRI did not have complement depression. It is postulated that antigen-antibody complex activation of complement may occur in CF patients with viral LRI.

Adolescent↗

PubMed2005

Nitric oxide in cystic fibrosis.

Cystic fibrosis (CF) is characterized by chronic airway infection and inflammation, which accounts for most morbidity and deaths. Exhaled nitric oxide (NO), elevated in most inflammatory lung diseases, is decreased in CF, suggesting decreased formation, increased metabolism or loss of NO. The nitrogen oxide metabolism in CF airways is complex and not yet fully understood. In this article we will summarize current understanding of the origin and function of NO in (patho)physiological processes in the lung of normal subjects and CF patients, possible explanations for and consequences of reduced NO concentrations in CF and possible therapetic strategies for treatment of CF patients.

Cystic Fibrosis↗

PubMed1993

Secretory leukocyte protease inhibitor in cystic fibrosis.

Cystic fibrosis (CF) is a genetic disorder that leads to a defect in chloride ion transport and results in pancreatic and pulmonary insufficiency. The pulmonary disease is characterized by bacterial colonization and inflammation with excessive levels of neutrophils and neutrophil elastase within the lung. Neutrophil elastase is considered to be one of the major mediators of the pulmonary damage. Secretory leukocyte protease inhibitor (SLPI) is a natural anti-protease found in the upper airways and has been successfully produced by recombinant technology. SLPI is effective in reducing elastase-induced damage in vitro and in vivo and has recently been administered safely as an aeroeol to CF patients with evidence of biochemical efficacy.

Cystic Fibrosis↗

PubMed2006

Electroconvulsive therapy for treatment of refractory depression in a patient with cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive inherited disease that is usually first diagnosed in early childhood. It is a chronic and progressive disease in which mucus builds up and clogs passages in many body organs, but primarily the lungs and pancreas. We present a case report of a 42-year-old man with CF who was treated with electroconvulsive therapy for treatment-refractory major depressive disorder. For patients with CF, the primary issue is anesthetic management in a patient with impaired pulmonary function. Our patient received prednisone and intravenous antibiotics to optimize pulmonary status. He responded positively to the electroconvulsive therapy and was able to tolerate it without significant problems.

Adult↗

PubMed1992

Genetic testing for cystic fibrosis.

Cystic fibrosis occurs in 1 in 2000 to 4000 whites, and about 1 in 25 people are heterozygous carriers. The CF gene is cloned, and a single common mutation is found on 70% to 75% of CF chromosomes in most populations. Numerous different mutations are found on the remaining CF chromosomes. DNA analysis for carrier testing should be offered to relatives of CF patients and to reproductive partners of proven carriers. Population based carrier screening could detect about 72% of at-risk couples, and pilot studies are in progress to assess the feasibility of such screening. With regard to these factors, the possibility of gene therapy, and the questions raised, CF serves as a useful model for many genetic disorders.

Cloning, Molecular↗

PubMed1989

Evidence for a mitochondrial lesion in cystic fibrosis.

Cystic fibrosis (CF) remains a major problem in human genetics and cell pathophysiology. It is a single gene trait caused by a mutation on the long arm of chromosome 7. Among its expressions are abnormal regulation of chloride channels and/or microobstructions in exocrine tissues. Here, evidence is presented that mitochondria are dysfunctional in CF: the major site of increased intracellular Ca in CF is mitochondrial, cells from subjects with CF consume more oxygen than normal, respond differentially to inhibitors of mitochondrial function, express increased electron transport activity and altered kinetics of complex I (NADH dehydrogenase) of the mitochondrial electron transport system. Patients with CF express increased total and resting energy expenditure. Some of these differences from normal occur also in asymptomatic carriers of the CF gene.

Calcium↗

PubMed2006

[Nephrolitiasis in a patient with cystic fibrosis].

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Defects in the CFTR gene cause abnormal chloride conductance across the apical membrane of epithelial cells, which results in progressive lung disease and also affects other organs. Because life expectancy has increased, other complications of CF have become more apparent. We present a patient with CF and symptomatic nephrolithiasis. Several stones were evident in both kidneys. A 24-hour urine sample showed hyperoxaluria (141 mg/24 h/ 1.73 m(2)) and hypocitraturia and (206 mg/24 h/1.73 m(2), 177 mg citrate/g creatinine). Nephrolithiasis should be included in the differential diagnosis of patients with CF and abdominal pain; urinary excretion of oxalate and citrate should be investigated.

Adolescent↗

PubMedDate not supplied

[Neonatal screening for cystic fibrosis].

Cystic fibrosis (C.F.), a congenital lethal disease involving many organs, is responsible of chronic pulmonary disease and maldigestion. At the beginning symptoms can be feeble and diagnosis is often delayed, especially in those cases with an isolated pulmonary expression. It is demonstrated that early diagnosis and immediate prophylaxis of pulmonary infections and maldigestion improves survival. Thus a neonatal screening test is required. Although various attempts have been done, dating from 1968, there is no evidence, up to now, of a real utility of neonatal screening tests in C.F. The only test with a minor frequency of false negatives and positives is the RIA trypsin serum dosage to be executed within 3-5 days of life.

Cystic Fibrosis↗

PubMed1997

[Clinical application of analysis of microsatellite markers in the prenatal diagnosis of cystic fibrosis].

Cystic Fibrosis (CF) is an autosomal recessive hereditary disease, caused by the defect of a membrane transport protein. The defect is due to the mutation of the gene coding this protein. To date, these mutations have been analysed by direct mutational analyses in prenatal diagnosis. During gene sequencing, intragenic polymorphic markers (microsatellites) were identified, enabling the indirect analysis of the mutant allele. The markers characterize the given allele, so that the inheritance according to the Mendelian rules could be followed. We introduced a DNA-diagnostic method based on the amplification of three intragenic microsatellites. This new and efficient prenatal diagnostic tool would provide more reliable test results for previously screened CF families, in which direct mutation analysis was not informative.

Cystic Fibrosis↗

PubMed1983

Absence of modifications of the enzyme defense system against oxygen toxicity in cystic fibrosis.

Cystic fibrosis (CF) has recently been linked to the group of human diseases in which cultured fibroblasts express premature aging. As the deleterious effect of oxygen derivatives in the cell is one of the numerous pathways associated with cell aging, the activity of the enzymatic defense system, superoxide dismutase (SOD), glutathione peroxidase (GSHPx), glutathione reductase (GR), was examined in the erythrocytes of 12 CF children and was compared to age-matched normal controls. No significant differences were found in CF children when compared to the controls. Glutathione-S-transferase was also assayed, but the significant difference found between CF children and normal controls is probably not specific of CF as it is found in other pathologic situations such as hyperbilirubinemia or renal insufficiency.

Child↗

PubMed2006

Chest computed tomography scans should be considered as a routine investigation in cystic fibrosis.

Cystic fibrosis (CF) patients demonstrate lung inflammation and infection beginning early in life. Both inflammation and infection lead to irreversible structural lung damage, primarily as bronchiectasis and fibrosis. The course of CF varies widely between patients due to genotypic and environmental differences. The primary aim of CF therapy is to prevent or delay structural damage and conserve lung function. Adequate monitoring of CF lung disease is paramount to tailoring treatment to a patient's need. Pulmonary function tests (PFTs) are important in monitoring lung function. PFTs, however, are only an indirect measure of lung structure and are insensitive to localised or early damage. By contrast, computed tomography (CT) is currently the most sensitive tool to monitor lung structure. As up to 50% of patients will have discordant staging of lung disease when PFTs are compared to CT findings, both methods are needed to adequately assess a patient's pulmonary condition and tailor the treatment strategy to the patient's needs.

Child↗

PubMed2005

Technology platforms for molecular diagnosis of cystic fibrosis.

Cystic fibrosis (CF) is one of the most common recessive genetic diseases in North America. So far, 1200 mutations causing CF have been identified. Several techniques such as allele specific oligonucleotide (ASO) dot-blot, reverse dot-blot, amplification refractory mutation (ARMS), and an oligo-ligation assay, are available to detect the most common mutations. However, detecting compound heterozygotes between DeltaF508, the most common disease causing mutation, and other mutations which are rare is difficult as some mutations are common only to particular ethnic groups. Therefore, new diagnostic tests such as restriction enzyme assays and single stranded conformational polymorphism (SSCP) have been designed to recognize rare and population-specific mutations. This review will describe the most commonly used CF mutation detecting diagnostic techniques, as well as novel assays and techniques currently in development that might be employed in future.

Cystic Fibrosis↗

PubMed1993

Home parenteral antibiotic therapy for patients with cystic fibrosis.

Cystic fibrosis is a genetic disease that affects multiple organ systems. Pulmonary complications associated with it frequently require intense intravenous antibiotic therapy. Home care allows patients to be treated at home, reducing the disruption of family life. New drug administration devices allow the patient increased mobility and independence. With adequate family and nursing support, patients may be able to attend work or school. Reduced hospital stays are good for the patient and cost effective for the hospital. The success of home antibiotic therapy depends on careful selection of the candidate, antibiotic regimen, nursing agency, and home care company. Many patients and families, though motivated, cannot manage the additional stress and time commitment required for home intravenous antibiotic and chest physical therapy. This time commitment may be reduced somewhat by limiting the number of antibiotics and the frequency of their administration.

Anti-Bacterial Agents↗

PubMed2000

Fatty acids in cystic fibrosis.

Cystic fibrosis (CF) is associated with deficiencies in certain essential fatty acids. These deficiencies have been studied in plasma, red blood cells, and mucus and were previously thought to be a result of malnutrition or malabsorption. More recent studies have indicated that these deficiencies are independent of nutritional status. However, these studies examined fatty acids in plasma but not in CF-regulated tissues. In the pancreas, lungs, and ileum of CF knock-out mice, membrane-bound arachidonic acid levels have been shown to be increased while docosahexaenoic acid levels are decreased. This lipid abnormality is reversed following oral administration of docosahexaenoic acid (DHA). In addition, DHA therapy reverses the increased neutrophil infiltration in the lungs of CF knock-out mice. Further studies are required to determine the mechanism by which CF gene mutations lead to this lipid abnormality.

Animals↗

PubMed1987

Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis.

Cystic fibrosis (CF) is a common autosomal recessive disease with significant morbidity and mortality. Defects in cAMP control mechanisms are implicated in the pathophysiology of the disease. The mutation causing CF has been localized to chromosome 7q22-7q31.1. We have used (1) somatic-cell hybrids containing this region of the human genome in a mouse background and (2) segregation analysis in families to exclude both the genes coding for a catalytic subunit and three distinct regulatory subunits of cAMP-dependent protein kinase as candidates for the gene defect in CF. Two of these genes--those for the human homologue of the mouse type I regulatory subunit and the human homologue of the rat type II regulatory subunit--map to human chromosome 7.

Animals↗