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.
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).