What is cystic fibrosis and why is it dangerous?
Cystic fibrosis is agenetic disorder that affects the various vital organs in the body,namely liver, intestine, lungs and sinuses. It is a life-threateninghereditary disorder whose usual targets are the lungs and thepancreas, but other organs in the respiratory, digestive andreproductive system are its frequent "victims" as well. Thetrick with cystic fibrosis is that it affects cells that secretefluids, lubricating, as saliva and mucus, or others,such as sweatand digestive juices. these cells are damaged by cystic fibrosis, andas a result, secretions of these cells, normally thin, fluid andslippery, become thick and sticky. They then cause obstruction orblockage of ducts in the lungs and the pancreas. Accumulation ofmucus in the lungs causes breathing problems, recurring lunginfections and ultimately lung damage. Mucus that has accumulated inthe pancreas causes digestive problems, as digestive enzymes that areproduced in the pancreas are not able to to reach the small intestine
As mentioned, cysticfibrosis is a genetic disorder. It is caused by a defect in the CTFR(cystic fibrosis transmembrane conductance regulator) gene. Genesdetermine how proteins are built. Basically, a gene is a blueprint,assembly instruction. Imagine that you have a false information inthe manual that tells you how to put together a car engine, and youend up with an engine that has one part missing, one part placedupside down, and one wrong part. That engine is not going to work,right? but since proteins are more complex and more flexible thanman-made engines, you might end up with a protein coded by adefective gene that might work well, might work bad, or might notwork at all. I this case, the protein coded by CTFR gene will notfulfill its role as it should. And this protein regulates movement ofsalt and water in and out of the cells. A defective variant of thisprotein will cause mucus secretions of the digestive and respiratorytract to be too thick and too sticky, and its influence on thereproductive system leads to infertility.
These will vary fromperson to person, as some affected people may will suffer fromdigestive problems, some from respiratory problems, and some fromboth. Presence of chronic respiratory infections such as chronicsinusitis, pneumonia and bronchitis is common, and these frequentlylead to asthma. Collapsed lungs is a life-threatening complication ofcystic fibrosis. Common problems associated with the digestive tractinclude chronic diarrhea and severe nutritional deficiencies, causedby lack of digestive enzymes in the intestine. Result is poorabsorption of vitamins soluble in fat such as vitamin A, vitamin D,vitamin E and vitamin K. Increased blood sugar levels are alsorelated to cystic fibrosis. Obstruction of bile duct can cause livercirrhosis and gallbladder diseases.
Diagnosis can be doneduring pregnancy, by extraction of amniotic fluid and its examinationfor fetal intestinal enzymes. The immunoreactive trypsinogen test(IRT) is carried out in newborns. Sweat electrolyte test is used fordiagnosis in children and young adults.
Treatment is based aroundprevention of infections, removal of mucus from the lungs andfocusing on adequate nutrition. Use of antibiotics, physical therapyand exercises is common for respiratory tract problems. Nutritionaltherapy is aimed at digestive problems.