Cystic Fibrosis (CF)

Cystic fibrosis is a genetic disease caused by a defect in the gene that codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). Defects in CFTR affect the salt and water content of mucous, making mucous thick and difficult to expel from airways. Other organs affected by this disease are the pancreas, sweat glands and the digestive system. If a person has one copy of the defective gene they are considered to be a carrier of the CF gene, whereas if a person has two defective copies they are likely to have full blown cystic fibrosis.

Symptoms: Symptoms start early in life and involve the production of thick sticky mucous, which can easily get colonised and infected by bacteria (e.g. Pseudomonas aeurginosa) which leads to difficulty breathing, coughing and recurrent lung infections. Thick secretions prevent the release of pancreatic enzymes resulting in digestive difficulties, malabsorption (especially of vitamins A, D, E and K) and pain after eating. Other symptoms are profuse sweating of salty sweat, clubbing of the fingers and greasy bulky stools.

Who to consult: dietician, GP, herbalist, naturopath, pharmacist, physiotherapist, psychologist, respiratory specialist.