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Cystic fibrosis is an inherited condition, which can lead to respiratory and other health problems. Although there is still no cure for the condition, the good news is life expectancy has improved in the last few decades.

For most people, breathing is not something they think about. But imagine feeling like you cannot get enough air into your lungs, and you are suffocating. That is what life can sometimes be like for people with cystic fibrosis. Cystic fibrosis can make breathing difficult and also lead to additional health problems. On the positive side, the life expectancy for the condition has doubled in the last 50 years. 

Gene Mutation and Cystic Fibrosis

Cystic fibrosis is a genetic condition, which means it is something you are born with. 

Individuals with cystic fibrosis inherited a gene, which affects the glands, which produce sweat and mucus.

Excess thick mucus is produced. When you think of mucus, you may think it only affects the nose and the lungs. But mucus can also build up in the pancreas and other organs.

The cause of the condition is a mutation in a gene, which generates CFTR protein. CFTR regulates water and salt levels in and out of the body. A mutation in the gene damages the normal production of CFTR protein. In order to develop cystic fibrosis, a child must have inherited the defective gene from both parents. Although the gene, which causes cystic fibrosis, has been identified, the reason it mutates in some people is still being researched.

Not every person who is a carrier of the disease will produce symptoms. 

According to the Cystic Fibrosis Foundation, about 30,000 in the United States have cystic fibrosis, but about 10 million people carry the gene.

In some people, symptoms start early in childhood. When symptoms start early in life, their lung function often starts to decrease by middle childhood.

Symptoms and Prognosis

In people who have cystic fibrosis, their mucus becomes thick and often sticky and is produced in excess. With thick mucus sticking to the lungs, breathing becomes difficult. The increase in mucus also creates an environment in the lungs where bacteria tend to grow easily. People with cystic fibrosis, often develop frequent respiratory infections, such as pneumonia. 

Mucus is not only present in the lungs. It can also build up in the ducts of the pancreas. Digestive enzymes produced in the pancreas are not able to research the small intestines, due to the excess mucus clogging the ducts. The enzymes breaks food down so nutrients can be absorbed by the body. Because the enzymes don’t reach the small intestines, proteins and fats cannot be completely absorbed.

As a result, nutritional deficiencies often develop in people with cystic fibrosis. 

The condition also increases the amount of salt in the sweat. When people with cystic fibrosis sweat, they may lose excess amounts of salt, which can lead to additional health problems. Salt is one of the minerals needed in the body and plays a role in proper fluid balance. When fluid balance in the body is disrupted, problems, such as dehydration and low blood pressure can develop.  

In addition to the health problems mentioned above, cystic fibrosis usually causes infertility in men and difficulty becoming pregnant in women. Both men and women with cystic fibrosis are also at an increased risk of bone loss as they age.

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