What is Cystic Fibrosis?

Cystic fibrosis (CF) is a fatal genetic disease that is inherited in an autosomal recessive pattern, meaning that individuals with mutations in both copies of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene will be affected by the disease. The CFTR gene encodes for the ion protein channel that regulates the transport of chloride and water through mucus producing cells. When this transport is disrupted, thick and sticky mucus starts obstructing pathways. While CF is commonly known as a severely progressing lung disease, it affects many organs, including the liver, pancreas, and intestines.

  • more than 70,000 cases of CF worldwide

  • around 1,000 new cases of CF diagnosed each year

  • about 2,000 mutations have been identified at the CFTR gene site

 

According to the Cystic Fibrosis Research Institute, primary symptoms of cystic fibrosis often include:

  • salty tasting skin

  • persistent cough

  • frequent lung infections

  • frequent sinus infections and/or nasal polyps

  • poor growth and/or difficulty gaining weight

  • frequent bowel movements with greasy or bulky stools

  • wheezing or shortness of breath

  • meconium ileus (intestinal blockage at birth)

  • male infertility

Source: Rafeeq MM, Murad HAS. Cystic fibrosis: current therapeutic targets and future approaches. J Transl Med. 2017 Apr 27;15(1):84. doi: 10.1186/s12967-017-1193-9. PMID: 28449677; PMCID: PMC5408469.