Cystic Fibrosis
Cystic fibrosis is an inherited genetic condition. It’s the most common genetic disease in Australia and large parts of the rest of the world. Long term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.
What does the Cystic Fibrosis gene
The Cystic Fibrosis gene, called Cystic Fibrosis Transmembrane Conductance Regulator gene controls the way water and salt, move across the body cells that line our respiratory system, digestive system and reproductive systems. In a person with Cystic Fibrosis, the CFTR gene is faulty. When the CFTR protein is faulty, epithelial cells can’t regulate the way that chloride passes across cell membranes. Because of the difficulty the body has in getting sodium and water into body cells, a person with Cystic Fibrosis will have higher levels of salt in their sweat, and can dehydrate easily.
Symptoms
Coughing up think mucus
Wheezing or shortness of breath
Getting sinus infections, bronchities , or pneumonia often
Weight loss of failure to gain weight
Bulky, oily, or foul-smelling stool
Two types of Cystic Fibrosis Diagnosed
Heel prick test
heel prick test it’s also known as the Guthrie test or blood spot testing. A small amount of blood is taken from the baby’s heel and sent for analysis. However, the heel prick test doesn’t pick up all cases of cystic fibrosis.
Sweat test
He sweat test is used as the definitive test for cystic fibrosis. A sample of sweat is analysed for chloride concentration levels and sometimes sodium concentration levels; high levels of chloride in sweat is extremely common in people with Cystic Fibrosis.
Cystic Fibrosis Treatment
Airway clearance to help clear the thick mucus that can build up in the lungs. There are a few different methods, one is manual physiotherapy performed by someone else, another is the use of an inflatable vest that vibrates the chest.
Enzyme supplements to help the digestion of food, taken with every meal and most snacks.
Inhaled drugs like dornase alfa , albuterol, salt solution, steroids, or antibiotics thin mucus, clear the lungs, and fight infections.
Supplements of vitamins A, D, and E can replace the nutrients your intestines can’t absorb.
Exercise to keep the lungs and the rest of the body strong and functioning as well as possible.
