Cystic fibrosis

Research output: Chapter in Book/Report/Conference proceedingChapter


Cystic fibrosis (CF) is one of the most common autosomal recessive disorders associated with decreased longevity in the Caucasian population. The disease is classically described as a triad; chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of chloride concentration in sweat. The underlying pathophysiology involves abnormal ion transport due to dysfunction of the CF transmembrane conductance regulator (CFTR). Altered salt and water movement across epithelia interferes with the hydration and ionic composition of mucus secretions. Abnormal mucus impairs clearance and defense systems, leading to inflammation and destruction of the lungs, the pancreas, and the developing vas deferens in males. The development of bioavailable small molecules that augment CFTR function is revolutionizing the treatment of CF.

Original languageEnglish (US)
Title of host publicationEmery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Subtitle of host publicationCardiovascular, Respiratory, and Gastrointestinal Disorders
Number of pages55
ISBN (Electronic)9780128125328
ISBN (Print)9780128126806
StatePublished - Jan 1 2019


  • CFTR
  • Chloride channel
  • Lung
  • Modifier genes
  • Pancreas
  • Precision therapy
  • Sweat gland

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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