Cystic Fibrosis

Cystic fibrosis or CF is a hereditary disease characterized by recurrent lung infection and delayed growth in children. It is caused by the presence of two defective CF genes, inherited from the parents. Parents are carriers of the disease (CF carriers), having one defective CF gene and one normal gene, and are asymptomatic.

The CF gene defect makes the body’s mucus to become abnormally thick and sticky, which gets trapped in the lungs, pancreas and other organs. This trapped thick mucus in the lungs results in recurrent lung infections which can be life threatening. Moreover, thick mucus in the pancreas blocks the channels transporting digestive enzymes to the intestine. This reduces the absorption of fat and fat-soluble vitamins (Vitamin A, D, E and K) from food leading to delayed growth.

Symptoms

The symptoms of cystic fibrosis may vary in intensity among different individuals and hence affected individuals may be diagnosed by the age 2, 18 or later. Some newborns with CF present with symptoms right from birth that may include no bowel movements as well as no meconium in the first 24 to 48 hours after birth; meconium is the thick dark stool passed by the newborns in the first few days after birth. Children with CF fail to gain weight, experience abdominal pain with severe constipation along with excessive gas and bloating. Their stools are pale or clay colored, contain mucus and float.

Diagnosis

In newborns, CF is diagnosed by a blood test for immunoreactive trypsinogen (IRT test), a protein produced by the pancreas. Increased levels of immunoreactive trypsinogen may indicate CF, necessitating further tests. In children and adults, CF is diagnosed by Sweat Chloride test. High chloride levels in sweat indicate CF. Apart from these, some additional tests such as chest X-ray, fecal fat test, lung function test, secretin stimulation test, trypsin and chymotrypsin in stool, upper GI and small bowel series of X-rays and pancreatic function test can also be used to detect CF.

Treatment

Treatment is primarily focused on maintenance of lung function and nutritional therapy. Nutritional therapy involves high protein and calorie diet with vitamin A, D, E and K supplements and pancreatic enzymes. Patients passing hard stool may require specific treatment to soften stools. Lung problems are managed by antibiotics, inhaled medicines, DNAse enzyme therapy and yearly vaccination with flu and pneumococcal polysaccharide vaccine (PPV). Oxygen therapy or lung transplant may be needed in severe cases.

Most children with CF are fairly healthy. However, the disease usually worsens in adulthood leading to disability. Severe lung complications can even lead to death.