(CF) By Akwele

An autosomal recessive disorder. A genetic disease inherited from both parents. The parents may not exhibit signs and symptoms of the disease. It occurs in 1 in 2,500 to 3,500 Caucasian newborns, 1 in 17,000 African Americans and 1 in 31,000 Asian Americans (Medline Plus). There is a dysfunction of the exocrine gland which does damage to the respiratory system and also causes problems to the digestive system. It is a multisystem disease affecting other systems including the reproductive.

Mutation of the cystic fibrosis transmembrane regulator (CFTR) gene results in abnormally regulated chloride channel activity leading to loss of salt in sweat four times more than normal. Thick secretions from the mucus gland lead to chronic obstructive lung disease in most patients as well as obstruction of the pancreatic duct as a result of which pancreatic enzymes cannot get to the gastrointestinal tract therefore preventing proteins, fats and fat soluble vitamins A, D, E and K from being properly absorbed. The progression of the disease varies from person to person.

The stasis of the thick mucus can lead to pneumonia, bronchitis, atelectasis (collapsed lung), hemoptysis, (spitting blood) amongst other lung disorders. The thick mucus obstructing the pancreatic duct causes steatorrhea (fat in stool), failure to grow and failure to gain weight. If the insulin producing cells in the pancreas are affected, it will lead to diabetes mellitus. Manifestations in childhood may include failure to grow, coughing a lot, large frequent bowel movements and a large abdomen. Over time, there is decrease in lung function, right lower quadrant pain, loss of appetite, emesis (vomit) and frequent bulky foul smelling stools.

As more children with CF become adults, it is important to note that the function of the reproductive system is also affected. The male adult may become sterile although not impotent. Fertility rate of women with CF is lower than in healthy women.

The main diagnostic test for CF is the sweat chloride test. Other tests include chest xray, lung function tests and fecal analysis for fat. Treatment of CF include pancreatic enzyme replacement, chest physiotherapy, aerosol and nebulizer treatments to reduce the viscosity of mucus. They are also given antibiotics, bronchodilators, anti-inflammatory agents whilst others receive lung transplants.

Goals of treatment include effective airway clearance, prevention and treatment of infection, adequate nutrition, maintaining hydration and protection from people with infection.


Disclaimer: This should be regarded only as information to understand disorders. Consult a physician for diagnosis and treatment of any disorder. References: Lewis, Sharon M.,Heitkember, M., & Dirksen, S. (2004) Medical-Surgical 6th ed. St Louis MI: Mosby Inc. WWW.MedlinePlus.com