- Diseases, Disorders & Conditions
Cystic Fibrosis Symptoms and Treatment
Fibrocystic disease of the pancreas, commonly called cystic fibrosis, is an inherited disease that first appears in childhood and is characterized by chronic lung disease, a deficiency of pancreatic enzymes, and an abnormally high concentration of salt in the sweat. Although it is a generalized body disease, it was misnamed "cystic fibrosis of the pancreas" because changes in the pancreas attracted the attention of the early investigators. Technically, the disease is known as mucoviscidosis.
The carrier rate in the population is about 5 per cent and the disease appears in about 1 per 2000 persons. The abnormal gene in some way determines a malfunction of many of the secreting glands of the body, particularly those producing mucus and digestive juices. The prominent involvement of the pancreas led to the disease being known as fibrocystic disease of the pancreas. The abnormal glandular secretions are excessively viscid and result in blockage of the small ducts and failure of the digestive juices to reach the intestine, with consequent difficulty in digesting food. In the lungs the viscid mucus plugs the small air passages, which predisposes to repeated infections and progressive damage, eventually leading to death in early adult life.
In cystic fibrosis the products of the exocrine glands have a variety of abnormalities. In particular, mucus, which ordinarily helps lubricate and protect many body surfaces, is so thick that it often obstructs the bronchi and other organ passages. This widespread obstruction gives rise to most of the symptoms and anatomical findings in the disease. The sweat glands are affected in a different way- they produce sweat that has an abnormally high salt content.
Cystic fibrosis is due to an inborn error of metabolism that is inherited as a recessive trait. In families where both parents are carriers, approximately 25% of all the offspring will have the disease, although the incidence may vary from one family to the next. The disease is relatively common among Caucasians, unusual among Negroes, and very rare in Mongolians. In the United States about 1 in every 2,000 children is born with the disease, and 5% of the population are carriers. In the days before antibiotics, patients succumbed to bronchopneumonia or malnutrition, and the underlying cause was not recognized. Cystic fibrosis is now known to be one of the most common chronic diseases of children in the United States. A diagnosis of cystic fibrosis should be suspected whenever a child has chronic or recurrent bronchitis or when malnutrition is present despite an adequate diet. The diagnosis may be confirmed through an analysis of the patient's sweat.
There is no cure for cystic fibrosis, and the treatment is aimed at relieving the patient's symptoms. Dietary restrictions counteract the lack of pancreatic enzymes, and in hot weather the patient is given additional salt to replace that which is lost through profuse sweating. The treatment of lung disorders includes the administration of antibiotics to combat infection, breathing exercises and other physical therapy measures, and the inhalation of certain solutions to help remove mucus from the bronchi.
With early diagnosis and appropriate treatment, the life span of patients with cystic fibrosis is greatly increased. Although many patients die in childhood, others reach early adulthood and are able to lead fairly normal lives.