What is cystic fibrosis?

Cystic fibrosis is defined as a genetic health condition that results from a defect or mutation in the gene responsible for the movement of water and salt in and out of cells, a gene (CFTR), which leads to the accumulation of thick mucus and sticky in the passages of the body, especially the lungs and digestive system, which in turn causes lung infections, problems and disorders in the digestion of food.

Is cystic fibrosis an inherited condition?

Yes, a child can develop cystic fibrosis if they inherit one copy of the affected gene that causes the condition from both parents, but the presence of only one copy of the gene will not cause the child to be affected by the condition, but they will be a carrier of the gene. and you can pass it on to your children.



✅ The main risk factor for cystic fibrosis is genetics.



Cystic Fibrosis Symptoms

The symptoms of cystic fibrosis usually start to appear in early childhood and differ from child to child, but the condition worsens over time and causes increasing damage to the lungs and digestive system, and the following are the common symptoms of cystic fibrosis:

• Persistent cough, sometimes accompanied by phlegm.
• Recurrent lung infections, including pneumonia and bronchitis.
• wheezing or shortness of breath;
• Poor growth or weight gain, despite a good appetite.
• A change in stool texture that makes it greasy or lumpy.
• difficulty defecating
• Presence of polyps or nasal polyps.
• Chronic sinus infections.
• Swelling of the tips of the fingers and toes.
• Rectal prolapse.
• Male infertility.
• Increased salt content in sweat.

Diagnosis of cystic fibrosis

To diagnose cystic fibrosis, the doctor usually performs a physical examination of the injured person and checks for symptoms, in addition to various diagnostic tests, and here is an explanation of this:

Diagnosis of the newborn

To diagnose cystic fibrosis in newborns, the doctor takes a blood sample to check the levels of a chemical called immune trypsinogen (IRT) that is released by the pancreas. Other tests are needed to confirm the diagnosis of cystic fibrosis.

Diagnosis of the baby

A doctor can use a sweat test to diagnose cystic fibrosis in a baby as soon as they reach two weeks of age. To do this, the doctor places a sweat-producing chemical on a small area of ​​skin, then collects the sweat to taste it and see if it is more salty than usual, in addition, the doctor may recommend genetic tests to check if there is a defect in the gene responsible for cystic fibrosis, as well as check the IRT levels to confirm the diagnosis.

Diagnosis of older children and adults.

Your doctor may recommend CF testing for older children and adults who weren't screened at birth, including genetic testing and a CF sweat test, as well as a number of tests, including:

• Blood tests: These include pancreatic function tests.
• Chest x-ray: This test uses x-rays to create images of tissues, internal organs, and bones.
• Pulmonary function tests: These tests help measure the ability of the lungs to exchange oxygen and carbon dioxide properly and are often done using special machines that the person must breathe into.
• Sputum culture: This test is done on sputum that has been expelled from the lungs into the mouth to see if an infection is present.
• Stool test: This test is used to measure the amount of fat in a stool sample. Excess fat indicates that the digestive system is not working as efficiently as usual.

cystic fibrosis treatment

There is no specific treatment that can completely cure cystic fibrosis, but available medications and treatments can relieve symptoms associated with the condition, and the following is an explanation of this:

Airway clearance techniques

Airway clearance techniques help break up and remove mucus, which reduces infection and improves breathing. Techniques include special breathing and coughing methods, oral devices, therapeutic vests that use vibrations to loosen mucus, and chest physiotherapy. These techniques are often used in conjunction with medications including bronchodilators and anticoagulants.

drug therapy

Your doctor recommends medications to open your airways, thin mucus, reduce infections, and help your body get nutrients from food. These medications include:

• Antibiotics: Antibiotics help reduce or treat lung infections and help the lungs work as usual. Antibiotics come in the form of oral tablets, an inhaler, or an injection.
• Anti-inflammatory medications: These medications reduce inflammation, which increases the risk of lung disease.
• Bronchodilators: Bronchodilators come in the form of an inhaler and help relax and open up your airways.
• Mucus thinners: Mucus thinners are meant to push sticky substances out of the airways and come in an inhaler form.
• CFTR modifiers: These drugs improve the function of the affected CFTR protein, thereby improving lung function, reducing lung problems and other complications.

surgery

Surgery may be an option for people with advanced cystic fibrosis, including:

• Lung transplant: Used for people with advanced lung disease and respiratory failure.
• Liver transplant: Used for people with advanced liver disease, including cirrhosis.