Let’s take a look at cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and sweat glands. It's a chronic condition that can significantly impact the quality of life of those who have it. In this blog, we will delve into what cystic fibrosis is, its causes, symptoms, and available treatments.

What is Cystic Fibrosis?

Cystic fibrosis is an inherited genetic disorder caused by mutations in the CFTR gene. This gene is responsible for producing a protein that regulates the movement of salt and water in and out of cells. When the CFTR gene is defective, it results in the production of thick, sticky mucus that can clog the airways and ducts of various organs.

Causes of Cystic Fibrosis

Cystic fibrosis is a genetic condition, which means it is caused by inheriting two faulty CFTR genes, one from each parent. Individuals who inherit only one faulty gene are carriers and typically do not exhibit symptoms. When two carriers have a child, there is a 25% chance that the child will have cystic fibrosis.

Symptoms of Cystic Fibrosis

The symptoms of cystic fibrosis can vary widely from person to person. However, common symptoms include:

1. Persistent coughing with thick mucus.
2. Frequent lung infections, including pneumonia and bronchitis.
3. Shortness of breath and wheezing.
4. Poor growth and weight gain despite a good appetite.
5. Chronic sinusitis and nasal polyps.
6. Salty-tasting skin due to excess salt in sweat.
7. Digestive issues, such as pancreatic enzyme deficiency leading to malabsorption of nutrients, abdominal pain, and frequent, oily stools.
8. Liver and gallbladder problems.
9. Infertility in males due to congenital absence of the vas deferens (the tube that carries sperm).

Diagnosis and Treatment

Cystic fibrosis is typically diagnosed through a combination of genetic testing, sweat chloride tests, and clinical symptoms. Once diagnosed, treatment focuses on managing the symptoms and complications. Common treatments include:

1. Chest physiotherapy: This involves techniques to help loosen and remove mucus from the airways.
2. Medications: Bronchodilators, antibiotics, and mucus-thinning drugs may be prescribed to manage lung issues and prevent infections.
3. Enzyme replacement therapy: People with cystic fibrosis often need digestive enzyme supplements to aid in nutrient absorption.
4. Lung transplant: In severe cases, a lung transplant may be considered when lung function becomes critically compromised.
5. Nutritional support: A high-calorie diet and nutritional supplements may be necessary to maintain healthy growth and weight.