CYSTIC FIBROSIS
Cystic fibrosis is an inherited, incurable, fatal disease, usually present at birth, which is caused by a defective gene.
It affects the respiratory system, pancreas, small intestines, sweat glands, and reproductive system.
Thick mucous forms in the air passages and lungs, making breathing difficult, allowing bacteria to grow and, in turn, causing susceptibility to respiratory infections.
Ducts of the pancreas become blocked, causing it to discontinue production of enzymes needed for digestion of food, and preventing nutrient absorption in the small intestines.
Absorption of salt in the sweat ducts becomes impaired, producing extremely salty sweat, which can lead to heat prostration and dehydration.
In addition, cystic fibrosis also affects the reproductive system.
Men with this disease are generally sterile because the tubes that transport sperm from the testicles are either underdeveloped or totally absent.
In women with cystic fibrosis, fertility may be reduced due to irregular menstrual cycles and/or abnormal cervical mucus.
Many people are carriers of the defective gene that causes cystic fibrosis, however, they have no symptoms.
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When two people who are both carriers of this gene produce a child, there is a 25 percent chance the child will be born with the disease, a 50 percent change the child will not have the disease, but will be a carrier, and a 25 percent chance that the child will neither have cystic fibrosis, nor be a carrier.
Detection of cystic fibrosis in the fetus through genetic testing is now possible, as well as genetic testing of couples that have a family history of the disease.
Symptoms
People with CF have a variety of symptoms, and they can vary from person to person because there are over a thousand mutations of the gene that causes this disease. Common symptoms include:
- very salty-tasting skin
- persistent coughing with phlegm
- wheezing
- shortness of breath
- fatigue
- frequent bouts of pneumonia
- excessive appetite
- poor weight gain
- clay colored or pale, foul smelling stools
- clubbing of fingers and toes
- spleen and liver enlargement
- development of diabetes
Summary
Unfortunately, there is still no cure for cystic fibrosis, however, research continues, new treatments are being developed, and the prognosis is improving. At one time, children affected with this disease were not expected to live much past seven years of age, but today, the average lifespan is 30 years.
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