Cystic fibrosis is a fatal genetic disease that is present at the time of birth and develops during early childhood; it’s the most common fatal genetic disease in the U.S. with about 30,000 Americans suffering from the disease. CF is found most commonly in Caucasians and is rare among Africans and Asians. The disease affects men and women equally. Though advances in research continue to improve the quality of life and increase the average age of survival for CF patients, there is no cure for CF yet. In 2005 the median age of survival for CF patients as 36.5 years.

The etiology of CF is a recessive disorder in which both of the genes in the CF pair are defective. Scientists discovered the CF gene known as the Cystic Fibrosis Transmembrane Gene in 1989, which is located on chromosome seven. In healthy people the genes produce a protein that regulates chloride passage across cell membranes.

In CF patients, the defective genes result in a stoppage of chloride passage in the cell membranes that causes the formation of thick, sticky mucus. This mucus causes many problems in CF patients’ lungs, pancreas, liver, salivary glands and testes by stopping up glands and organs causing glandular atrophy and organ dysfunction. The mucus narrows airways and decreases airflow, which impairs respiratory function. In addition, the presence of excessive stagnant mucus creates an optimum environment for bacterial growth resulting in chronic lower respiratory tract bacterial infections like chronic bronchitis and lung abscesses. Over time CF causes changes in the bronchioles including bronchiole distention, hyperplasia and hypertrophy of mucus-producing cells.

Primary non-pulmonary problems include pancreatic inadequacy with malnutrition and gastrointestinal obstruction, poor growth, male sterility and cirrhosis. These primary problems cause a wide range of secondary problems including abdominal distention, gastroesophageal reflux, rectal prolapse and steatorrhea. Most adult CF patients are smaller and thinner than average adults and may be malnourished and have vitamin deficiencies. CF patients are also at a high risk of diabetes mellitus from loss of insulin production, as the pancreatic function decreases.

More than 70 percent of CF patients are diagnosed by age two. The most common quantitative diagnostic test to determine the presence of CF is the sweat chloride analysis, known commonly as the sweat test. The defect in the CF gene in chloride movement inhibits the absorption of sodium chloride in the sweat glands, and as a result more chloride than normal is present in the sweat. Abnormal levels of chloride in the sweat of a CF patient range from 60 to 200mEQ/L compared with the normal value of 5 to 35mEQ/L in a healthy patient. About 4 percent of the U.S. population is classified a carrier of CF. Carriers are people with one abnormal gene of the pair that do not have any symptoms. Still, carriers can pass the abnormal gene onto their children. Many children’s magazines and parenting magazines run articles on children and cystic fibrosis.

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