Cystic fibrosis in children

Cystic fibrosis is a genetic disease, which means you get it from your parents at birth. It affects how your body produces mucus, a substance that helps your organs and systems function. The mucus should be thin and slippery, but in cystic fibrosis it becomes thick and gluey. This blocks the tubes and ducts throughout the body.

Over time, this thick mucus builds up in the airways. This makes breathing difficult. The mucus traps germs and causes infections. It can also cause serious lung damage such as cysts (fluid-filled sacs) and fibrosis (scar tissue). This is how cystic fibrosis got its name.

Cystic fibrosis symptoms

People with cystic fibrosis may experience symptoms, including:

• Trouble with bowel movements or frequent, greasy stools
• Wheezing  or trouble breathing
• Frequent lung infections
• Infertility, especially in men
• Trouble growing or gaining weight
• Skin that tastes very salty

Causes of cystic fibrosis

Cystic fibrosis is caused by a change or mutation in a gene called CFTR. This gene controls the flow of salt and fluid in and out of your cells. If the CFTR gene is not working properly, sticky mucus builds up in your body.

To get cystic fibrosis, you must inherit a mutated copy of the gene from both parents. Ninety percent of affected individuals have at least one copy of the F508del mutation.

If you inherit a single copy, you will not have any symptoms, but you will be a carrier of the disease. This means that there is a chance that you can pass it on to your children.

Diagnosis of cystic fibrosis

Early diagnosis means early treatment and better health later in life. Tests newborns for cystic fibrosis with one or more of these three tests:

• Blood test. This test checks the level of immunoreactive trypsinogen. People with cystic fibrosis have higher blood levels.
• DNA test. This looks for mutations in the CFTR gene.
• Sweat test. It measures the salt in your sweat. Above normal results suggest cystic fibrosis.

Some people who are not tested at birth are not diagnosed with cystic fibrosis until they are adults. Your doctor may order DNA or sweat tests if you have symptoms of the disease.

Treatment of cystic fibrosis

There is no cure for cystic fibrosis, but medications and other treatments can relieve symptoms.

• Medications. Your doctor may give you medicine to open your airways, thin mucus, prevent infections, and help your body get nutrients from food. This includes:
• Antibiotics. They can prevent or treat lung infections and improve lung function. You can get them as tablets, inhalers, or injections.
• Anti-inflammatory drugs. These include ibuprofen and corticosteroids.
• Bronchodilators. You will get them from an inhaler. They will relax and open your airways.
• Mucus thinners. They will help you remove dirt from your airways. You will get them from an inhaler.
• CFTR modulators. This helps CFTR work properly. They can improve lung function and help you gain weight.
• Combination therapy. The new drug Elexacaftor/Ivacaftor/Tezacaftor (Tricafta) combines three CFTR modulators to target the CFTR protein and ensure it works effectively.
• Airway clearance techniques. They can help get rid of mucus. You can try :
• Chest therapy or percussion. This includes tapping or tapping on the chest or back to clear mucus from the lungs. Someone else does it for you.
• Oscillating devices. You breathe into a special device that vibrates in your airways. This thins the mucus and eases the cough. Instead, you can wear a chest vest.
• Physiotherapy for cystic fibrosis. This includes breathing exercises designed to push air between the layers of mucus and the chest wall. They facilitate expectoration of coughs and clear clogged airways. Some common exercises include:
• Autogenic drainage. To do this, you sharply exhale or blow. This moves mucus from the small airways to the central airways and makes it easier to clear.
• Active respiratory cycle. This controls your breathing and relaxes your upper chest and shoulders, which can help clear mucus and prevent airway blockages. You take a deep breath, hold it, and then exhale for varying amounts of time.

Cystic fibrosis complications

The lungs are not the only part of your body. Damage caused by cystic fibrosis. Cystic fibrosis also affects the following organs:

• Pancreas. The thick mucus caused by cystic fibrosis blocks the pancreatic ducts. This prevents proteins that break down food, called digestive enzymes, from entering the intestines. As a result, your body struggles to get the nutrients it needs. Over time, this can also lead to diabetes.
• Liver. If the tubes that carry bile become blocked, your liver becomes inflamed. This can lead to severe scarring called cirrhosis of the liver.
• Small intestine. Because it can be difficult to break down the acid-rich food coming from the stomach, the lining of the small intestine can wear out.
• Large intestine. Thick fluid in your stomach can make your poop large and difficult to pass. This can lead to deadlocks. In some cases, your intestines may also begin to curl up like an accordion, a condition called intussusception.
• Bladder. Chronic or prolonged coughing weakens the muscles of the bladder. About 65% of women with cystic fibrosis suffer from stress urinary incontinence. This means that you urinate when you cough, sneeze, laugh, or pick up something. Although it is more common in women, men can also suffer from it.
• Kidneys. Some people with cystic fibrosis have kidney stones. These hard little balls of minerals can cause nausea, vomiting, and pain. If left untreated, you can get a kidney infection.
• Reproductive organs. Excess mucus affects fertility in both men and women. Most men with cystic fibrosis have problems with the tubes that carry sperm, called the vas deferens. Women with cystic fibrosis have very thick cervical mucus, which can make it difficult for a sperm to fertilize an egg.
• Other parts of the body. Cystic fibrosis can also lead to muscle weakness and bone thinning, or osteoporosis. Because it disrupts the balance of minerals in the blood, it can also cause low blood pressure, fatigue, heart palpitations, and a general feeling of weakness.

Although cystic fibrosis is a serious condition that requires daily care, there are many ways to treat it, and these treatments have improved significantly in recent years. People with cystic fibrosis can now expect to live much longer than those who have had it in the past.