Cystic fibrosis is a very serious disorder that is fatal if not treated properly. A defective gene causes thin body secretions, such as lung mucus, digestive juices, sweat and reproductive secretions, to become thick and sticky. Serious and life-threatening problems may arise due to this thickening. There is no permanent cure for cystic fibrosis yet, but symptomatic treatment is given.
When the lungs and airways are choked, the cystic fibrosis patient coughs and produces very thick sputum. He is short of breath and develops wheezing. Polyps may grow in the nasal passages. The frequency of sinus, chest infections, pneumonia and bronchitis increase.
As the digestive juices do not reach the intestine, due to blocked ducts from the pancreas and liver, the fats and protein are not digested. The stool is bulky, greasy and foul smelling. The cystic fibrosis patient may have excessive appetite but is undernourished and underweight, as the food is not digested properly for absorption. A trypsin test may indicate whether sufficient enzymes from the pancreas are available for digestion.
The sweat may taste salty. When we kiss a child with cystic fibrosis we can taste this excessive salt taste. To diagnose cystic fibrosis positively we measure this saltiness in sweat. Technicians coat an odorless chemical on a small area of the skin in the arm, and stimulate that area with electric current to produce copious sweat. This sweat should contain about 40 m mol/l in a normal person. Above 60 m mol/l of salt in a sweat test will confirm the diagnosis of cystic fibrosis. With cystic fibrosis patients the duct that connects the testes and vas deferens may get blocked. Most cystic fibrosis patients are sterile.
Treatment is mainly to ease the symptoms and lead a normal life in spite of the malady. Bronchodilators and mechanical vibrators keep the lungs and airways clear. Enzyme and vitamin supplements keep the digestive system near normal. With correct lifestyle management Americans are living to their 30s and 40s with cystic fibrosis.
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