Cystic fibrosis is a genetic disease that causes severe damage to the respiratory and digestive systems. Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices.

Mucus lubricates and protects the lining of the respiratory, digestive, and reproductive systems, whereas sweat helps regulate body temperature. Digestive juices help break down food in the small intestine. In people with cystic fibrosis, the mucus is sticky and thick, causing blockages in the lungs and pancreas. The disease is inherited, which means it is passed down from parents to children.

Symptoms

The symptoms of cystic fibrosis vary from person to person and can range from mild to severe. Some of the common symptoms include:.

Persistent cough with thick, sticky mucus
Frequent lung infections such as pneumonia or bronchitis
Wheezing or shortness of breath
Poor growth or weight gain in children
Frequent greasy and bulky bowel movements
Difficulty in passing stool
Rectal prolapse in infants
Infertility in men due to absence of vas deferens (a tube that carries sperm from the testes to the urethra)

People with cystic fibrosis may also develop diabetes, osteoporosis, or liver disease due to malabsorption of nutrients.

Inheritance

Cystic fibrosis is an inherited disease caused by mutations in a gene called cystic fibrosis transmembrane conductance regulator (CFTR). This gene produces a protein that regulates the transport of salt and water in and out of cells.

When the CFTR gene is mutated, the protein does not function properly, leading to the accumulation of thick mucus in the respiratory and digestive systems.

Cystic fibrosis is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated CFTR gene (one from each parent) to develop the disease.

If a person inherits only one copy of the mutated gene, he or she is a carrier of the disease but does not have symptoms. People who are carriers of the disease can pass the mutation to their children.

Diagnosis

Cystic fibrosis is usually diagnosed in early childhood through newborn screening or when symptoms first appear. The diagnostic tests include:.

Sweat test: A test that measures the amount of salt in sweat. People with cystic fibrosis have higher than normal levels of salt in their sweat.
Genetic testing: A test that examines a person’s DNA to identify mutations in the CFTR gene.
Lung function tests: A test that measures the amount of air a person can exhale and how quickly they can exhale.
Chest X-ray or CT scan: A test that produces images of the lungs and chest.

Treatment

There is no cure for cystic fibrosis. Treatment aims to manage the symptoms and prevent complications. The treatment plan may include:.

Chest physical therapy: A technique that involves clapping and vibrating the chest to loosen and remove mucus from the lungs.
Medications: Antibiotics to treat lung infections, bronchodilators to open the airways, and mucus-thinning drugs to make it easier to cough up mucus.
Enzyme supplements: To help digest food in the small intestine.
Nutritional counseling: To ensure that people with cystic fibrosis are getting adequate nutrients.
Lung transplant: In severe cases, a lung transplant may be necessary.

Conclusion

Cystic fibrosis is a genetic disease that affects the respiratory and digestive systems. The disease is inherited in an autosomal recessive manner.

The symptoms of cystic fibrosis can range from mild to severe and include persistent cough, frequent lung infections, and poor growth in children. There is no cure for cystic fibrosis, but treatment can manage the symptoms and prevent complications.