Cystic Fibrosis – Causes, symptoms and treatment

Cystic Fibrosis

What is Cystic Fibrosis?

Cystic Fibrosis is a genetic disorder that causes severe damage and infection to the lungs, gastrointestinal tract and sweat glands. It is a condition that affects the cells that produce mucus, sweat and digestive juice. Usually, the mucus is thin and slippery, but due to the condition of Cystic Fibrosis, the mucus becomes thick and sticky.  

The thick mucus results in trouble breathing as the mucus blocks the airways. Over time the mucus fills inside the airways leading to the cause of infection.

What causes Cystic Fibrosis?

Cystic Fibrosis disorder occurs because of a defect in the gene. It is hereditary. The defect or mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene causes Cystic Fibrosis. The defective genes affect the cells producing mucus, thus, making them thick and sticky.

What are the symptoms of Cystic Fibrosis?

The symptoms always vary with the severity of the disorder. Pay attention to the following symptoms:

  • Trouble breathing
  • Frequent lung infections
  • Blockage in the nasal passage
  • Wheezing
  • Sinus infection
  • Persistent coughing
  • Constipation or Diarrhoea

How is Cystic Fibrosis diagnosed?

The Cystic Fibrosis diagnosis method uses different tests that include the following.  

In newborns, the CF is diagnosed through newborn screening so that treatment can begin immediately. Sweat tests and blood tests are the two tests to check for Cystic Fibrosis in newborn children.  

A blood test helps to check the immunoreactive trypsinogen (IRT). People affected with Cystic Fibrosis have a high level of IRT.  

Sweat tests can also determine whether the individual has Cystic Fibrosis. It helps to measure the salt in sweat. The sweat test is the commonly used test to diagnose Cystic Fibrosis. In people with Cystic Fibrosis, the rate of salt in the body is higher than normal.  

A genetic test is carried out to check the genes that cause Cystic Fibrosis. Blood samples will be collected and sent for further examination to check for Cystic Fibrosis. A genetic test can also be performed to check for the mutations in the CFTR genes.

What are the treatments for Cystic Fibrosis?

There is no cure for Cystic Fibrosis. The treatment and medication aim to treat the symptoms and reduce the risk of developing other health complications.

Medications for Cystic Fibrosis

  • Patients with Cystic Fibrosis are given antibiotics to treat lung infections and prevent them from recurring.
  • Anti-inflammatory medicine works to reduce inflammation in the nasal passage and lungs.
  • Mucus-thinning medications make the mucus thin so that it would leave the lungs without causing trouble. The medication also helps to increase lung function.
  • Bronchodilators relieve or treat the mucus clogged in the air tubes that carry air to the lungs. This helps to increase the airflow.
  • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators stabilize CFTR gene function.

Surgical treatments for Cystic Fibrosis 

The treatment for Cystic Fibrosis is as follows,

Nasal and sinus surgery to clear the blockage in air tubes. Sinus surgery is performed to avoid the risk of developing Chronic Sinusitis. 

Bowel surgery is necessary if there is a blockage in the bowel. So, bowel surgery helps to remove the blockage.

A lung transplant is necessary if there are severe breathing problems or lung infections. Cystic Fibrosis disorder is not cured by lung transplantation, but it helps ease the symptoms and the complications of Cystic Fibrosis.

Oxygen therapy becomes necessary when the oxygen level declines. The treatment is all about the inhale of pure oxygen to prevent the risk of high blood pressure in the lungs.

Noninvasive ventilation (breathing through a face mask) provides positive pressure in the lungs and airways to aid respiratory function. The treatment is usually carried out at night while sleeping and often combined with oxygen therapy. Here, positive pressure is provided by a mouth or nasal mask while breathing, thus clearing the airways.  

What are the complications of Cystic Fibrosis?

Cystic Fibrosis is a life-threatening disorder. If untreated, the complication of Cystic Fibrosis can damage the pancreas. The thick mucus can block the pancreas ducts and results in poor digestion, and in the worst conditions, it can cause Diabetes.  

In the same way, the mucus can get blocked in the liver, small intestine, large intestine, kidney, bladder and other organs. The consequences cause severe problems and hazards.


Prevention of Cystic Fibrosis is hard because the disease is inherited. Medical advancement has brought about helpful treatments that would ease the symptoms of Cystic Fibrosis. Consult your doctor to prevent the disease from causing further complications.

It is better to diagnose it at its early stages. Note the symptoms and follow regular health check-ups.

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