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Cystic fibrosis is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas because of hoe think and sticky they are.

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Can it be detected before birth? If so how?

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Can it be detected before birth? If so how?

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Yes, CF can be detected before birth with prenatal screening in some states. CF is mainly diagnosed after birth with the newborn screening which is done a few days after the baby is born by taking blood from their heel and put on a Guthrie Card.

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What can affects how the disorder is expressed?

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What can affects how the disorder is expressed?

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“Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.

In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.

Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs.”

- Cystic Fibrosis Foundation

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Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier. About 10 million people in the United States are CF carriers.
People with CF have inherited two copies of the defective CF gene one copy from each parent. Both parents must have at least one copy of the defective gene.
Each time two CF carriers have a child, the chances are:

25 percent (1 in 4) the child will have CF

50 percent (1 in 2) the child will be a carrier but will not have CF

25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. So, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

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What are the symptoms of Cystic Fibrosis?

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What are the symptoms of Cystic Fibrosis?

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People with CF can have a variety of symptoms, including:

Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Nasal polyps

Chronic sinus infections

Clubbing or enlargement of the fingertips and toes

Rectal prolapse

Male Infertility

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Most people are diagnosed with cystic fibrosis by the age of 2, some are diagnosed as adults. A cystic fibrosis specialist can order a sweat test and recommend additional testing to confirm a diagnosis.
Diagnosing cystic fibrosis is a multistep process, and should include a:

Newborn screening

Sweat test

Genetic or carrier test

Clinical evaluation at a CF Foundation-accredited care center

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CF currently has no cure but it can be controlled and treated with therapies like;

Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.

Inhaled medications to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear.

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.

An individualized fitness plan to help improve energy, lung function, and overall health

CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.