Health Care

By: Jessica Vandelay

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.

There are many treatments for the symptoms and complications of CF that are designed for maintenance and management. Treatments may include aerosolized antibiotics, mucus-thinning drugs, bronchodilators, manual or mechanical bronchial airway drainage, oral enzymes and specialized nutrition and lung transplants. Death usually happens as a result of heart failure associated with a massive chronic bacterial infection of the lungs. Beyond treatments, lung and pancreas transplants are common surgical solutions for CF patients. The procedures do not result in cure of the disease, because the genetic defect and symptoms remains. Instead, the patient experiences a decrease of symptoms initially and gradual progression of the disease. However, CF patients are often unsatisfactory candidates for lung and pancreas transplants because of malnutrition and complications with other organs. Good resources for information on health and diseases are magazine titles like Respiratory Ailments Magazine, Bottom/Line Health and Health magazine.

Scientists continue to search for a cure for CF and new ways to improve the quality and longevity of life for CF patients. Research on CF is a multidisciplinary effort with scientists from molecular biology, immunology and medicinal chemistry working together. According to the National Human Genome Research Institute researchers are aggressively working on ways to cure CF by correcting the defective gene. Gene therapy for CF started in 1990 when scientists successfully fixed faulty CF genes by adding normal copies of the gene to lab cell cultures and in 1993 scientists reached a breakthrough when a CF patient received an experimental gene therapy treatment in which scientists altered a common cold virus to act as a vector carrying normal genes to the CF gene in the airways of the lung. Scientists continue CF research by testing ways to deliver genes through fat capsules, synthetic vectors and nebulizers. Still, many questions remain and the fight to find a cure continues.

For discount magazine subscriptions featuring health, visit http://www.magazines.com/ncom/mag?view=1&btn=B&l=10&search=health. Jessica Vandelay is a free-lance writer in New York City.

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