Burton L. Shapiro, Ph.D. and Ralph C. Heussneer, Jr. report that cystic fibrosis can date back to as early as the 1600’s when there were references to children with a “salty taste” and fatty stools. It was not defined as a distinct disease until the 1930’s. Shapiro and Heussneer also state that in 1944 scientists recognized how a widespread defect in mucous secretions could explain many symptoms of cystic fibrosis. In 1946 the recessive inheritance pattern was proposed. Diagnosis, the development of the sweat test, and successful treatment of lung infection with antibiotics came about in the 1950’s. In 1985 three different groups of scientists proved that the gene, which holds the recessive trait of cystic fibrosis, was located on chromosome 7.

According to Encarta, in the United States cystic fibrosis occurs i

the National Academy of Sciences, Dr. Vojo Deretic and colleagues published the results of their laboratory experiments. These results suggest that the gene defect that causes cystic fibrosis also causes the lining of the lungs to be acidic. The researchers have only observed and analyzed cells grown in test tubes. Deretic said in an interview that neutralizing the pH of the lining of the lungs may slow or prevent bacterial infections and improve the quality of life of cystic fibrosis patients. He said that the patients would use an inhaler, much like that of asthma patients, to deliver an acid-neutralizing drug to their lungs.

Children’s Hospital of Boston reports that the treatment of this disease depends upon the stage of cystic fibrosis and which organs are involved. The treatment consists of two main parts; controlling the lung infections and improving nutrient absorption when necessary. One way of treatment is chest physical therapy in which there is vigorous percussion on the back and chest to dislodge the thick mucus from the lungs. Antibiotics can be used to treat lung infections and are admitted through the veins, by pills, and/or medicated vapors that are inhaled to open up clogged airways. In some cases the patient may use a lung transplant as an option. The Cystic Fibrosis Foundation says that when the disease affects the digestive system, the body does not absorb enough nutrients. If this is the case they may need to eat an enriched diet and take both replacement vitamins and enzymes to improve absorption. According to the NHLBI the digestive problems are less serious but do require prescriptions. The patient is put on a high-calorie diet, which is low in fat but high in protein. They are also often given pancreatic enzymes to help digest

shorter than if they would not have had a transplant. However, it is said that those who received transplants had a much better quality of life and were able to do more things.

chorionic villus biopsy. However, reports the NHLBI, these tests are very expensive, and may bring risk to the mother. These tests may not be able to detect all of the cystic fibrosis gene mutations.

The NHLBI tells us that at times the sweat test may not work in the testing of newborns because the do not produce enough sweat. When this occurs another type of test, the immunoreactive trypsinogen (IRT) test, may be used. In this test, blood is drawn two to three days after birth, and is analyzed for a specific protein called trypsinogen. Positive IRT tests must then be confirmed by sweat and other tests. The Children’s Hospital of Boston claims that testing for cystic fibrosis is routine for newborns in some states. The NHLBI addresses the question of the possibility of detecting cystic fibrosis in an unborn baby. It is possible using prenatal genetic testing, such as amniocentesis or

According to the American College of Obstetricians and Gynecologists, Cystic Fibrosis is often detected within the first few months of life. It can be detected during pregnancy through chorionic villus sampling, done around the eleventh week of pregnancy, or amniocentesis which is done around the sixteenth week of pregnancy. Shapiro and Heussner explain that by the age of two the disease is usually discovered if the child has it. Rarely the disease is detected in late childhood or later.

Some topics in this essay:
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