Frequent chest congestion, lack of weight gain... Is this Cystic Fibrosis (CF)? Let's be aware of this.

Does your little one always have a stuffy nose? No matter how much food they give, they become thin without even realizing it? Does it sometimes feel like they have trouble breathing? It's normal for parents to feel scared when they see these symptoms. These may be symptoms of a condition called Cystic Fibrosis (CF), which we may not have heard of much, but is very important to know. Let's talk about this without fear and simply today.

What exactly is cystic fibrosis (CF)?

Simply put, this is a genetic disease that is inherited from parents . There is a special gene that controls the movement of salt (chloride) and fluids through the cells of our body. This is called the CFTR (cystic fibrosis transmembrane conductance regulator) gene . So, CF disease occurs when there is a defect or mutation in this gene.

What happens because of this defect? ​​Normally, the secretions in our bodies, such as mucus and pus , are thin and slippery. But in the body of a person with CF, these secretions become very thick, thick, and sticky .

Imagine what happens when this thick mucus builds up in the lungs. It makes it difficult to breathe, germs easily get trapped , and infections become more frequent . Over time, this can cause severe damage to the lungs, respiratory failure, and even death.

Also, these thick secretions block the ducts of the pancreas. Then the digestive enzymes that help digest the food we eat are not released . As a result, malnutrition and stunted growth occur. In addition, liver disease, diabetes (`Cystic Fibrosis-Related Diabetes` - CFRD) and fertility problems can also occur.

But don't worry. Today, thanks to advanced treatments, the life expectancy of CF patients has increased by decades.

What are the symptoms of this disease?

The symptoms of CF can vary from person to person. They also vary depending on the severity of the disease. Let's take a look at the main symptoms.

Atypical cystic fibrosis

This is a milder form of CF. Symptoms appear later in life. Sometimes only one organ is affected.

What causes CF?

As we discussed earlier, this is caused by a defect in the gene called CFTR . For a child to develop this disease, the child must receive a copy of the defective gene from both the mother and the father .

How is the disease diagnosed?

It is very important to diagnose this disease early, because then treatment can be started quickly and possible complications in the future can be minimized. In Sri Lanka, some hospitals are now testing children for this at birth.

The main tests used to diagnose the disease are:

• Sweat test: This is the most reliable test for diagnosing CF. It measures the amount of salt (chloride) in sweat without causing any pain. If the amount is much higher than normal, it is a sign of CF.
• Blood test: This tests the level of a chemical called `Immunoreactive Trypsinogen (IRT)` in the blood. This level is high in CF patients.
• Genetic testing (DNA test): This directly checks for defects in the `CFTR` gene.

In addition to these tests, your doctor may recommend other tests to confirm the diagnosis and look for complications. For example, a chest X-ray, pulmonary function tests (PFTs), and sputum and stool tests.

What are the treatments?

Because CF is a complex disease, treatment is provided by a multidisciplinary team of specialists, including a pulmonologist, a physiotherapist, and a nutritionist. The main goals of treatment are to clear the lungs of mucus, prevent infections, and provide the necessary nutrition.

Medications

Your doctor may prescribe medications such as:

• Antibiotics: Prevent and treat lung infections.
• Mucus-thinning medications: These are given through an inhaler or nebulizer. They help thin out thick mucus and make it easier to cough up.
• Bronchodilators: They widen the airways and make breathing easier.
• Pancreatic enzyme supplements: These should be taken with every meal and snack. They help with digestion and nutrient absorption.
• CFTR modulators: These are the newest and most effective class of drugs. These drugs help restore the function of the defective `CFTR` protein that directly causes the disease. This can thin mucus, improve lung function, reduce coughing, and even reduce weight gain. `(Trikafta, Kalydeco, Orkambi)` are some of these types of drugs.

Airway Clearance Techniques (ACT)

These are things that should be done daily, at least twice a day. They help loosen and remove the thick mucus that is stuck in the lungs.

• Chest physical therapy: Having someone rhythmically tap the back and chest to loosen mucus.
• The Vest: This is a vest connected to a special machine. When worn, high-frequency vibrations tap the chest, causing an action to occur and loosen mucus.
• PEP devices: Exhaling through small devices like `(Flutter, Acapella)` creates pressure in the lungs and helps clear mucus.

Surgeries

Some complications may require surgery.

• Lung transplant: A last resort when the disease is very severe and the lungs are almost completely dysfunctional.
• Liver transplant: If the liver is severely damaged.
• Other: Things like removing nasal polyps, inserting a feeding tube into the stomach to provide food.

Possible complications of CF

If CF is not treated properly, various complications can occur.

• Lungs: Permanent widening of the airways (`Bronchiectasis`), lung collapse (`Pneumothorax`), chronic infections.
• Pancreatitis: CF-related diabetes (`CFRD`).
• Liver: Liver scarring (Cirrhosis).
• Intestinal: Intestinal obstruction, increased risk of colon cancer.
• Reproductive system: Male infertility and delayed childbearing in women.
• Bones: Thinning of bones (Osteoporosis).

Frequently Asked Questions (FAQs)

Cystic Fibrosis, CF, genetic disease, chest congestion, shortness of breath, weight loss in children, CFTR gene, sweat test