Cystic fibrosis is an inherited disorder which is known to cause severe damage to the major body parts such as the digestive system, respiratory system, and reproductive system. This condition largely affects the cells which produce sweat, digestive juices, and mucus.
There is no definite cure of this disease but symptomatic treatment can be given and complications can be reduced.
How is cystic fibrosis caused?
Cystic fibrosis is inherited by a child when both parents possess the defective gene. Every individual inherits a single cystic fibrosis transmembrane conductance regulator (CFTR) gene per parent. Ones who carry this gene from both parents suffer from this condition; however, the ones who carry a single faulty gene are termed as ‘CF carriers’ and are out of danger.
How is cystic fibrosis diagnosed?
All newborns in the country are tested for cystic fibrosis. Doctors normally tend to opt for a blood test or a genetic test to witness the signs of this condition. The blood test is used to determine if the liver and pancreas of the baby are working normally whereas the genetic test helps detect the presence of the CFTR gene, which is defective in nature.
Here are some common methods to diagnose cystic fibrosis.
Immunoreactive trypsinogen test (IRT)
A higher than normal level of IRT present in the blood is a sign of cystic fibrosis. Although, this is not enough to confirm the presence of cystic fibrosis in itself. A standard screening test for the newborns, IRT detects abnormal protein levels in the blood.
A chest X-ray helps reveal any swelling in the lungs which normally occurs due to any blockages present in the respiratory passageways.
A sputum test, as the name suggests, is a test of mucus. The mucus sample confirms the presence of a lung infection, if at all any. It also helps identify any germs that might be present, after which the doctor can prescribe suitable antibiotics.
What a CT scan essentially does is generating detailed and vivid images of the body part under consideration with the help of X-rays taken from multiple directions. These images help the doctor to view the pancreas and liver and assess if they’re working normally or not. This makes it easier for them to detect any levels of organ damage, if applicable.
Sweat chloride test
This is one of the most common tests for cystic fibrosis diagnosis. What it does is check for increased salt levels in the sweat. The test incorporates a chemical which induces sweat on the skin after being triggered by a weak current. The traces of sweat are then collected on a piece of paper and analyzed. The cystic fibrosis diagnosis is done if the sweat turns out to be saltier than the average amount.
Pulmonary function tests (PFTs)
PFTs are used to determine the state of your lungs and whether they’re functioning properly or not. The test measures the quantity of air that can be exhaled or inhaled and how diligently these lungs are transporting oxygen to the other body parts. Any prevalent signs of abnormality indicate the presence of cystic fibrosis.