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Cystic Fibrosis

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A genetic disorder, cystic fibrosis leads to the production of excessive thick mucus in the lungs and pancreas. This leads to blockage within the organs leading trouble breathing and digestion. The life expectancy of the affected person is thus greatly affected. However, with the advancement in medical science, life expectancy has improved vastly.

Understanding Cystic Fibrosis

Cystic fibrosis is an inherited disorder, wherein both parents need to be the carriers of the defective gene. The defective gene is called as cystic fibrosis transmembrane conductance regulator (CFTR). When normal the gene produces a protein that helps in transportation of salt in and out of cells. The defective gene produces a defective protein leading to a blockage in the transportation of the salt. Thus, leading to production of thick, sticky mucus outside the cell. In case of lung cells, it affects breathing and in the case of the pancreas, it leads to problems with digestion. When it blocks the sweat glands, it leads to loss of excessive salt through sweat. This leads to imbalance of minerals within the body.

Causes of Cystic Fibrosis

Cystic fibrosis is a recessive disorder. This means, in order to inherit the disease, the child must get two sets of defective genes from both parents. When just one copy is passed, it makes the child a carrier of the disease.

Symptoms of Cystic Fibrosis

The symptoms of cystic fibrosis vary in different individuals. It can manifest itself in infancy or appear as late as in adolescence years. Some of the symptoms include:

  • High levels of salt in skin. Thus, ones skin tasting salty is the most important symptom of this disease.
  • Poor weight gain
  • Inability of gaining height as other children of the same age
  • Frequent chest infection
  • Recurring bouts of coughing
  • Shortness of breath
  • Bowel obstruction in newborn babies
  • Poor absorption of nutrients
  • Respiratory illness like pneumonia and bronchitis
  • Greasy stools

Diagnosis of cystic Fibrosis

Diagnosis of cystic fibrosis is usually carried out as a part of routine screening in newborns. If diagnosed early it can help in early treatment. Some of the tests carried out for diagnosis and screening for cystic fibrosis are as follows:

Immunoreactive Trypsinogen (IRT) test : This is a test carried out in newborns to check for high levels of IRT chemicals produced by the pancreas.

  • Sweat Test : A sweat test is where the sweat is checked for more than normal content of salt.
  • Genetic Test : Test to check the presence of the faulty gene responsible for cystic fibrosis.

Some tests that are carried out on adolescents and adults showing signs of cystic fibrosis include:

  • X ray : To check for any damage to the lungs or digestive system
  • Organ Function Tests : To check for the health of various organs that can be affected by this disease.

Treatment of Cystic Fibrosis

Cystic fibrosis is incurable. However, there are many treatments available that helps individuals life a fuller, longer life. These treatments help in clearing the mucus from the lungs. Some of the treatments include:

  • Use of mucus thinners that help in removing the excess cough from the lungs
  • Bronchodilators that helps in opening the airways and clearing the mucus within the lungs
  • Antibiotics that help in reducing bacterial infection
  • Ibuprofen to reduce the swelling in the lungs that causes shortness of breath
  • Hypertonic saline that helps in thinning the mucus.

Some may require surgical intervention such as:

  • Nasal polyp removal
  • Lung transplantation
  • Bowel Surgery, etc.


The prognosis of cystic fibrosis has improved manifold in the past few years. Today, many children live through their graduation. Some people have even survived till they reach the age of 40 years. However, the quality of life can be affected. The disease tends to be hard to manage as one is always suffering from inflammation and severe lung infection.

This was all about cystic fibrosis. It is important to diagnose the disease sooner to help cope up with the condition and manage the symptoms better. Speak to a doctor if someone in your family had been diagnosed with the disease.

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Written by: Saptakee sengupta
Date last updated: March 02, 2015

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