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Cystic Fibrosis- Causes and Symptoms!

Written and reviewed by
Dr. Rakesh Sharma 89% (29 ratings)
DDF, FCCP, MD , MBBS
General Physician, Delhi  •  31 years experience
Cystic Fibrosis- Causes and Symptoms!

Cystic Fibrosis is a genetic disorder that is known to affect some of the vital organs of the body including the lungs, digestive system to name a few. For long it was believed that cystic fibrosis affects a person in their childhood. However, various research and studies suggest that adults are also susceptible to this inheritable disorder. In this article, we will discuss the cause and symptoms associated with cystic fibrosis.

Cause
The epithelial cells that line the stomach, nasal cavity and lungs, are responsible for the production of the digestive fluids, sweat, tears, mucus. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene codes for a protein called the CFTR protein. The CFTR protein, a membrane protein plays a pivotal role in transporting the chloride ions of the epithelial cells inside and out of the cell. This regulation of the chloride ions goes a long way in ensuring that the mucus produced is free-flowing and thin.

In the case of Cystic Fibrosis, the CFTR gene that codes for the protein undergoes a mutation. With the CFTR protein unable to perform its function, sticky and thick mucus builds up and clogs some of the major systems of the body including the digestive system, reproductive, and respiratory system. There is also a higher salt content in the sweat of the affected person.

For a person to be affected by cystic fibrosis, he/she must inherit a copy of the mutated CFTR gene from both the parents ( Autosomal Recessive Disorder) at birth.

Symptoms
The symptoms associated with cystic fibrosis depends on the organs and systems affected.

  1. The thick mucus formed can clog the digestive tract resulting in incomplete absorption of the essential nutrients from the food. This may have an impact on the overall growth and development of the body.
    • - There may be stunted growth or no weight gain.
    • - The stool may appear greasy and foul smelling. Some may also suffer from constipation.
    • - Newborns and infants may suffer from an intestinal blockage.
  2. Cystic fibrosis, left unattended can lead to diabetes, intestinal blockage or obstruction.
    • - The mucus can also block the bile duct triggering a host of problems including liver disorders.
    • - At times, the obstruction or blockage can occur at the junction where the large and the small intestine meets (Distal intestinal obstruction syndrome).
  3. The thick mucus can also affect the lungs and the respiratory system by blocking the tubes that act as a passage carrying the air inside and out of the lungs. As a result,
    • - A person may suffer from lung infections frequently.
    • - There may be difficulty in breathing, stuffy and blocked nose, or wheezing.
    • - Some people may also suffer from a chronic cough with a thick sputum.

Left untreated the complications can worsen resulting in

Nasal polyps, Chronic infections, Hemoptysis (there is blood while coughing), and Pneumothorax (air fills up in the space bifurcates the chest wall from the lungs).

In severe cases, there may be a respiratory failure.

Cystic fibrosis can also trigger fertility problems (both in males and females).

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