INTRODUCTION Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. CASE PRESENTATION We descri...

Background—Antenatal screening for cystic fibrosis has been endorsed by the US National Institutes of Health. Edinburgh is the only city in the UK with an established routine antenatal screening programme for cystic fibrosis. Aims—To report the change in numbers of infants diagnosed with cystic fibrosis born in Edinburgh after the introduction of antenatal screening for the disease. Population—...

Patients with cystic fibrosis have been found to have abnormal serum concentrations of immunoreactive trypsin and abnormal activities of pancreatic isoamylase. A study was undertaken to discover whether activity of pancreatic lipase is also altered in cystic fibrosis. Serum from 23 patients with cystic fibrosis was assayed for immunoreactive trypsin and pancreatic lipase. Median serum pancreati...

The median life expectancy for cystic fibrosis is now over 30 years, and it is projected that in newborn infants it will become more than 40 years. The identification of the cystic fibrosis gene and its product, cystic fibrosis transmembrane conductance regulator (CFTR), has widened the spectrum of the disease from the classical case of the infant with cystic fibrosis to the elderly childless m...

Medical imaging provides an invaluable service for the diagnosis and treatment of cystic fibrosis. A wide array of modalities including radiology, CT, MRI, and ultrasound all contribute to possible diagnosis. Each modality is valuable in detecting different symptoms that can arise due to cystic fibrosis. Possible connections between abdominal and pulmonary pathologies have increased the likelih...

Parents of children with cystic fibrosis have been reported to have a high prevalence of increased airway reactivity, but these studies were done in a select young, healthy, symptomless population. In the present study respiratory symptoms were examined in 315 unselected parents of children with cystic fibrosis and 162 parents of children with congenital heart disease (controls). The cardinal s...

References 1 Nixon GM, Armstrong DS, Carzino R, et al. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J Pediatr 2001; 138: 699–704. 2 Emerson J, Rosenfeld M, McNamara S, et al. Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr Pulmonol 2002; 34: 91–100. 3 Frederiksen B, Koch C, Hoiby N. Antib...

4 Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6. 5 Ferec C, Audrezet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1: ...

Almost all patients with cystic fibrosis eventually develop chronic pulmonary infection with specific bacterial pathogens, notably Pseudomonas aeruginosa and Staphylococcus aureus. Despite this, the development of large pulmonary abscess cavities in patients with cystic fibrosis is exceedingly uncommon. Similarly, bacteraemia in cystic fibrosis is surprisingly rare. We describe a patient with c...

A t the basic level, we know the genetic cause of cystic fibrosis: it is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR).1,2 At the clinical level, we know that chronic bacterial airway infection, prominent neutrophilic inflammation and mucus in airways, and progressive bronchiectasis characterize advanced cy...