English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Cystic fibrosis (CF) is the most common life-threatening autosomal recessive genetic disease among the Caucasian population, with an estimated incidence throughout the world of between 0.25 5 per 10,000 live births (Lewis et al., 1995). It is caused by mutations on both CF transmembrane conductance regulator (CFTR) alleles, resulting in pancreatic exocrine insufficiency in 95% of patients, abnormal sweat electrolytes, sino-pulmonary disease and male infertility (MacCready, 1963). In its classic form, this multi-system disease is characterized by one or more of several features varying in severity, including a progressive decline of pulmonary function secondary to chronic lung infections, pancreatic exocrine insufficiency leading to malnutrition and growth impairment, liver disease, and decreased reabsorption of chloride ions from sweat (Zielenski et al., 2000). The disease is easily diagnosed early in life, through a combination of clinical evaluation and laboratory testing including sweat testing and CFTR mutation analysis (Ross, 2008). However, 7% of CF patients are not diagnosed until age 10 years, with a proportion not diagnosed until after age 15 years. Because the phenotype in these patients may vary widely some of these patients present a considerable challenge in establishing a diagnosis of CF (Wilcken et al., 1995; Hammond et al., 1991).

Biochemical and Molecular Genetic Testing Used in the Diagnosis and Assessment of Cystic Fibrosis