Cystic Fibrosi

Cystic Fibrosis- This is an inherited pathological condition of the secretory glands which usually affects the lungs, pancreas, liver, and intestines causing a variety of symptoms.

What Is Cystic Fibrosis?

Cystic Fibrosis

Cystic Fibrosis as stated is an inherited medical condition of the secretory glands. The function of the secretory glands is to produce mucous and sweat. Since this condition is inherited, it means that it is passed from parent to the offspring through genes. It is an autosomal recessive type condition which means that one faulty gene needs to be inherited from both parents in order for the offspring to get this condition. Cystic Fibrosis affects mainly the lungs, pancreas, liver, and intestines. This condition causes the mucous to become thick and sticky. It then starts to build up in the lungs and starts blocking the airways. This gradual buildup of mucous facilitates growth of bacteria and resultant infections which can severely damage the lungs.

Causes Of Cystic Fibrosis

Cystic Fibrosis is an inherited disease. The main cause of Cystic Fibrosis is a defect in the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This gene is responsible for making a protein which controls movement of salt and water in the body's cells. In individuals who are affected with Cystic Fibrosis, this gene does not function appropriately causing mucous to become thick and the sweat to become extremely salty.

Facts About Cystic Fibrosis

  • Cystic Fibrosis as stated is an inherited disorder of the secretory glands which affects the lungs, pancreas, liver, and intestines.
  • Cystic Fibrosis is caused due to a defect in the CFTR gene, which is responsible for controlling movement of water and salt in the cells and if this gene malfunctions then it results in buildup of mucous and extremely salty sweat.
  • Cystic Fibrosis causes the mucous to become thick and sticky which may make the body prone to infections and can even block the airways.
  • Cystic Fibrosis may cause the lungs to malfunction as early as in childhood and overtime there is permanent damage to the lungs.

Who Is At Risk For Developing Cystic Fibrosis?

Cystic Fibrosis equally affects males and females. This condition is found in people of all races and ethnic groups, although it is more common in Caucasians and Northern Europeans. Cystic Fibrosis is also quite common in people from Latin America

Symptoms Of Cystic Fibrosis

Symptoms Of Cystic Fibrosis When It Affects The Respiratory System:

Individuals affected with Cystic Fibrosis will have sticky and thick mucous blocking the airways. This causes frequent bouts of severe cough which will be productive of thick phlegm. Sometimes, blood may also be noted in the mucous. Individuals with Cystic Fibrosis also tend to have frequent lung infections irresponsive to standard treatments. Cystic Fibrosis also causers frequent bouts of sinusitis. As the disease progresses, the individual may develop serious conditions like pneumothorax or bronchiectasis.

Symptoms Of Cystic Fibrosis When It Affects The Digestive System:

In Cystic Fibrosis, the thickened mucous may block tubes or ducts in the pancreas thus preventing necessary enzymes from reaching the intestines, which may result in foul-smelling, greasy stools.
As Cystic Fibrosis gets worse, other medical conditions may start propping up like

Diagnosis of Cystic Fibrosis

The Following Tests Are Conducted In Order To Confirm A Diagnosis Of Cystic Fibrosis:

  • Sweat Test: This test is conducted on individuals who are genetically proven to have Cystic Fibrosis. This test measures the amount of salt in the sweat of the individual. If there is a high level of salt in the body, then it will confirm the diagnosis of Cystic Fibrosis.
  • Chest X-ray: A chest x-ray will confirm whether the lungs are inflamed or scarred confirming Cystic Fibrosis.
  • X-Ray Of The Sinuses: If there is presence of sinusitis, it will be shown on x-rays which is another complication of Cystic Fibrosis.
  • Pulmonary Function Test: This test will give a measure of how much air is taken in by the lungs at one time.
  • Sputum Culture: This test will confirm the presence of any bacteria in the sputum.

Treatment For Cystic Fibrosis

At present, treatment for Cystic Fibrosis is still under research. Some new medications have been developed for treatment of Cystic Fibrosis but their efficacy is still under observation. The main aim for treatment of Cystic Fibrosis is:

  • Prevent and control lung infections
  • Removal of thick mucus from lungs
  • Prevent blockages in the intestines
  • Providing adequate nutrition

Latest Developments In The Treatment For Cystic Fibrosis

At present, studies are being conducted on two medications namely ivacaftor with the brand name Kalydeco and lumacaftor. It is definitely a move towards better treatment for Cystic Fibrosis but researchers are of the opinion that more study needs to be done before assessing the full potential of the medications. Currently used medications try to treat the symptoms of Cystic Fibrosis but not the root cause of it whereas Kalydeco targets the root cause which is the malfunctioning protein that causes Cystic Fibrosis. As of now, studies reflect that only abut 5% of affected population have shown positive results.

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Last Modified On: July 24, 2015

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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