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Cystic Fibrosis Definition, Causes, Treatment, Sign and Symptoms

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What is cystic fibrosis?

Cystic fibrosis (FB) is a life threatening illness that causes severe damage mainly to the lungs and digestive system. It is an inherited (autosomal recessive genetic) disorder and is characterized by buildup of thick sticky mucus.

Mucus is a slippery substance present in human body that protects the inner linings of many organs such as respiratory system, digestive system, etc.

In patients with cystic fibrosis, abnormally thick and sticky mucus is produced. This abnormal mucus is thick and sticky enough to clog the respiratory airways leading to severe breathing problems. Not only respiratory system, this abnormal mucus affects digestive system as well, which can be fatal.

Cause of Cystic Fibrosis?

Cystic fibrosis is caused by mutation in CFTR gene “ Cystic Fibrosis Transmembrane Conductance Regulator.

Click Here for more information about CFTR gene

Sign & Symptoms of Cystic Fibrosis

Sign & symptoms of cystic fibrosis vary in different patients depending on the severity of the illness. Symptoms may keep varying with time, even in the same person. The symptoms of cystic fibrosis usually occur in adolescence or early adulthood but in some cases, signs and symptoms may be seen at early ages.

People with cystic fibrosis have remarkably higher level of salts in their sweat. Mostly, signs and symptoms of cystic fibrosis are seen in respiratory and digestive system.

How cystic fibrosis does affect respiratory system?


Cystic FibrosisAbnormally thick and sticky mucus is released in respiratory airways resulting in the obstruction of the airways. This obstruction causes severe respiratory symptoms such as:

  • Persistent cough with thick sputum
  • Heavy breathing
  • Shortness of breath (dyspnea)
  • Frequent chest infections
  • Inflamed nasal passages

Effects of cystic fibrosis on digestive system

cystic fibrosis digestive symptoms

The thick sticky mucus also blocks the digestive tract or digestive tract passages which transport digestive enzymes. Without these essential digestive enzymes, your intestine is not able to absorb the minerals and nutrients from the food and as a result, following symptoms may be seen in patients:

    • Foul-smelling stools
    • Greasy stools
    • Poor growth
    • No weight gain (weight loss may be seen in some cases but it is rare)
    • Severe constipation


Effects on Endocrine System

  • Diabetes: The thick secretions in patients with cystic fibrosis can also damage the pancreas, which is responsible for producing insulin. Damage to pancreas may lead to diabetes.
  • Osteoporosis & weak bones: Vitamin D is essential for our bones because it is involved in calcium and phosphate regulation. Because of the defects in digestive system, vitamin D is poorly absorbed by the body which leads to weak bones, and bone diseases such as osteoporosis.

Effects on Reproductive system

Infertility may be seen in people with cystic fibrosis. More than 97% of men with cystic fibrosis suffer from infertility. Some women are also infertile due to thickened cervical mucus.

How to diagnose cystic fibrosis?

Cystic FibrosisParents should be very cautious if they find the sweat of their child saltier than normal. It is usually noticed by parents when they kiss their child.

Newborn screening & diagnosis

It is very useful to screen your child for cystic fibrosis at birth. All 50 states in US are screening newborns for cystic fibrosis. The screening test is blood test for immunoreactive trypsinogen (IRT). IRT is released by pancreas. High levels of IRT are indicative of cystic fibrosis. If IRT is higher, further testing is done to confirm the diagnosis.

  • Sweat test: Sweat of the baby (at least 1 month old) is tested if it is saltier than normal.
  • Genetic testing: DNA samples of the newborn are tested for defects on CFTR gene.

Testing for cystic fibrosis is recommended for older children and adults who were not screened at birth.

Post-diagnosis testing

If cystic fibrosis is diagnosed, regulars test are needed to help in the proper management of the disease. Following tests are included:

  • Imaging: Imaging tests such as x-ray, CT scan, and MRI are done to see the extent of damage caused to lungs or intestines.
  • Lung function test: Lung test are recommended to see how well your lungs are functioning. Lung functioning test measure the size, capacity, and elasticity of the lungs.
  • Sputum culture: Sputum of the patient is collected and analyzed microscopically for bacteria.

Other tests: Many other tests are done to see the functioning of the body. These tests include:

  • Complete blood count (CBC)
  • Liver function tests (LFTs)
  • Renal function tests (RFTs)
  • Blood sugar level

Treatment of cystic fibrosis

There was a time when cystic fibrosis was thought to be an incurable condition. But now researchers have discovered a novel therapy against cystic fibrosis.

Novel Therapy Against Cystic Fibrosis Discovered by Researchers

Besides that, the mainline treatment is symptomatic treatment. The goal is to keep the symptoms of the disease to a minimum. Treatment includes:

  • Treat lung infections: Give oral or intravenous antibiotics.
  • Cough with sputum: Bronchodilators to keep your airways open and relaxed.
  • Mal-nutrition: Provide adequate nutrition + oral pancreatic enzymes
  • Mucus thinning drugs: To help you cough out the mucus.
  • Anti-inflammatory drugs (NSAIDs): To prevent inflammation in respiratory airways.

Along with all these medications, physicians usually recommend chest physical therapy (CPT). CPT is found to be very helpful in coughing out thick mucus.

Cystic fibrosis can be fatal as it causes life-threatening complications. The complications can be seen in many organs but are mainly seen in lungs and digestive system.

Complications in respiratory system:

  • Bronchiectasis: Cough with lot of foul-smelling sputum.
  • Nasal polyps: Small outgrowths in nostrils.
  • Chronic infections: Pneumonia, bronchitis, sinusitis, etc.
  • Pneumothorax: Air in pleural space

Digestive system complications:

  • Diabetes
  • Blocked bile duct: may lead to gall stones
  • Nutritional deficiencies
  • Rectal prolapsed: protrusion of rectum out of anus.


Guide to understanding genetic conditions

Natural Human Genome Research Institution

Cystic Fibrosis Research, Inc.

National Center for Biotechnology Information