Progression & Diagnosis

Cystic fibrosis causes mucus to build up in the lungs and digestive tract, and as a result, it is known to cause progressive damage to the respiratory system and chronic digestive system problems. Mucus – the slippery lubricant produced in your body – is needed to protect the lining of the airways, digestive system, reproductive system, and other organs and tissues. As it moves through the body, mucus can collect bacteria and foreign microorganisms to be swept from the body (for example, the cilia in the nose can sweep mucus out of the nasal passages to remove foreign particles). In individuals with cystic fibrosis, the mucus that the body produces is more thick and sticky than normal, and as a result, it builds up in the airways to clog the passage to the lungs. Not only does this mucus obstruct the airway to make breathing more difficult, but it also allows bacteria to build up in the lungs and cause permanent lung damage. Chronic mucus buildup and infections can lead to the formation of scar tissue and cysts over time. Cystic fibrosis can cause problems of the digestive system as mucus builds up within the pancreas – an organ that produces insulin and enzymes for the body to digest food – and prevents the enzymes from reaching the intestine, thus inhibiting digestion. This obstruction is what causes symptoms of cystic fibrosis such as diarrhea, malnutrition, poor growth, and unexplained weight loss. 

Early diagnosis of cystic fibrosis is extremely beneficial in creating the appropriate treatment plan for the patient. Generally speaking, cystic fibrosis is tested for using one of three methods: the sweat test, newborn screening, or genetic carrier testing. A sweat test is a sample of sweat that is tested for high levels of salt. High salt levels indicate the deficiency of the CTFR gene that would transport the salt ions to other areas of the body. Newborn screening is a series of diagnostic tests performed on newborn babies in every U.S. state to determine illnesses. It is not a definitive way of determining CF, but it can lead to tests that can confirm or rule out a CF diagnosis. Genetic carrier testing is a blood test taken from the parents of an individual who is showing symptoms of cystic fibrosis. This test can reveal whether or not the parents are symptom-free carriers of the defective gene, keeping in mind that one must inherit the defective gene from both parents to show symptoms of cystic fibrosis.  

References:
https://www.cff.org/