Cystic Fibrosis (CF) is a very common, fatal genetic disease of the cells that line the lungs, small intestines, sweat glands and pancreas. The lungs are mostly affected where thick mucus gets built-up causing respiratory problems. Mucus with protein also hinders the functioning of pancreas, which help in digestion of food and absorption of vital nutrients, thereby leading to problems in the digestive system.

In our body, the cystic fibrosis transmembrane conductance regulator (CFTR) regulates the flow of salt and water in and out of the body’s cells. When the body gets cystic fibrosis, the formation of a protein allows too much salt and not enough water to the cells resulting into the constitution of thick and sticky mucus in the tubes and passageways of the lungs and the digestive system leaving them damaged, inflamed and infected.

The following are some quick facts about cystic fibrosis:

• The symptoms of cystic fibrosis include: Infection in lungs, lasting cough along with phlegm, breathing and respiratory tract problems, inadequate growth and very slow rate of gain in weight, frequent greasy or bulky stools, problems in the digestive system and salty-tasting skin.
• The diagnosis of cystic fibrosis is done by doctors by taking sample of sweat from the person’s arm or leg. The sweat of people having cystic fibrosis contains salt between 2 and 5 times the salt in sweat of normal people. For newborn babies, the amount of protein called trypsinogen in the blood is measured which is higher in people with cystic fibrosis than normal people. A faulty CFTR gene in the patient’s blood can be diagnosed with the help of genetic tests.
• A child inherits two CFTR genes, one from the mother and one from the father. A person inheriting one abnormal copy of the CFTR gene is called a carrier. Carriers pass the disease on to the children. There is only 50% chance that the child will receive one faulty gene and become carrier of the disease and 25% chance that the child will receive both the faulty genes and develop the disease.
• There is no cure for cystic fibrosis in the present world. The treatment of cystic fibrosis is aimed at minimizing the effects and progression of the disease. People affected with cystic fibrosis are required to attend a major cystic fibrosis center or clinic regularly to undergo the treatment.
• Cystic fibrosis is very common among people who have descended from North European or UK race and is also highly prevalent among people having ancestors from South Europe and Middle East. The disease is almost absent in people having Asian ancestors.
• In Canada, almost 60% of all people having cystic fibrosis are adults. 30% of female adults and 17% of male adults, having cystic fibrosis, are found to be underweight.
• There are about 1000 or even more different mutations in the CFTR gene in the patients having cystic fibrosis. In 70% of cystic fibrosis patients, the mutation found is a three base deletion in the DNA sequence which results in the lack of a single amino acid in the protein product.
• There are about 25000 babies born with cystic fibrosis in the U.S every year and it is worth to know that more than 10 million Americans carry the CF gene but they are unaware about it.
• The common treatments for CF disease include: chest physical therapy in which the patient is continually clapped on the back in order to free the chest from mucus, inhaling antibiotics to kill bacteria to end lung infections, usage of Bronchodilators to keep the airways open, intake of pancreatic enzymes to help in digestion of food and insertion of healthy CFTR gene into the lung cells to rectify the defective gene.
• The deaths related to CF are mainly due to lung disease caused by chronic infections and inflammation in the lungs due to harmful bacteria such as Staphylococcus aureus or Pseudomonas aeruginosa. The life expectancy for many people with CF has increased to 38 years due to the various treatments available.
• Children, having CF, have a good intellectual ability and also have a good attendance record in schools. However, they have to take time off for visiting clinics to undergo treatment.