Cystic Fibrosis

Cystic Fibrosis

Adriana Juarez

Honors Biology, G Period

March 5, 2013

Cystic Fibrosis is an inherited disease that affects the lungs and digestive system. This disease affects approximately 30,000 kids in the United States and 70,000 in the world. This disease affects a gene, and this gene and its protein cause the body to produce a thick mucus. Around the 1950’s, children that had this disease were not expected to see life past elementary school. Now, with improved technology, people can live until they are in their 30’s or 40’s.

The name of the disease is cystic fibrosis. Many people have studied the disease without actually knowing what it was, but Dorothy Hansine Andersen is the accredited discoverer of the disease. Although the symptoms were studied before Andersen’s discover, she was the first to describe the disease accurately. Andersen studied medicine and received a pediatric degree at The Johns Hopkins University School of Medicine. She was born in 1901 in North Carolina and was involved in diagnostic and therapeutic serviced and pathology. She was the first to recognize cystic fibrosis as a disease and she also helped create a test to diagnose the disease. Children and infants are affected by this disease. Approximately 1 in 2,500 white children have the disease, and about every one in 25 white children are carriers of Cystic Fibrosis. It is very common in white children, but extremely rare in other races. It is common in the Caucasians, which includes Ashkenazi Jews. The carrier rate for non Caucasians is significantly less. About one in 65 Hispanic Americans is a carrier. Ireland has the highest rate of carriers with every one in nineteen people carrying the disease.

Cystic Fibrosis affects the long arm of chromosome 7. This disease is autosomal recessive. This means that in order to have the disease one must inherit the gene form both parents. If one parent has the gene, but the other doesn’t, then the zygote would simply be a carrier, but they would not be affected by the disease. If someone has the disease, they will inherit a mutated CFTR gene on chromosome 7 (cystic fibrosis transmembrane conductance regulator). This gene usually regulates the entrance and exit of salt in the cell. If the gene does not work properly and the movement is blocked, then a thick mucus builds up on the outside of the cell. The region of the body that is most affected by this are the lungs. Symptoms and future problems that the disease cause can vary from person to person.

Symptoms of cystic fibrosis can vary due to the severity of the disease. An early indicator for parents is a salty taste to the child’s skin when kissed. The disease causes the sweat glands to produce abnormally salty sweat. Also, babies with cystic