CYSTIC FIBROSIS: A GENETIC AUTOSOMAL DISORDER

Cystic fibrosis a fatal genetic disorder which targets and affect the working of respiratory, reproductive and digestive system of our body along with sweat glands. It is also in general known as CF or muco-viscidosis, which is characterized by secretion of extremely thick mucus that blocks the respiratory and digestive passage in our body. This disorder affects the exocrine glands of liver, lungs, intestine and pancreas, which causes the secretion of thick mucus in these regions of the body.

Cystic fibrosis can also be transmitted and expressed in child, when both the parents have recessive genes responsible for causing this disease, but do not have this disease. The couples having recessive genes have 25% of possibility of having this disease in their children and 50% chance that the children will possess the genes. The degree of severity of the disorder is variable with few children showing the acute symptoms and with people showing milder symptoms till their mid adulthood.

It is a fatal disorder and an average lifespan of patient with cystic fibrosis is 28 to 30 years of age. Now-a-days, with improved medications and mucus drainage procedural interventions, the average lifespan of children with this disorder is increased and they are able to live till mid-adulthood or beyond that. Earlier, children manifested with cystic fibrosis were not able to reach their adulthood. The ultimate cause of death in patients with cystic fibrosis is acute respiratory tract infection along with swelling/enlargement of the right side of heart.

The abnormally thick mucus secreted by the exocrine gland of the patients with cystic fibrosis results in the clogging the passage of lungs and in turns facilitate growth of bacteria in lungs, which causes frequent lung infections.. Similarly, due to congenital absence of vas deference in males with cystic fibrosis causes infertility among them. Greasy stool/stool with mucus and stunted growth is also seen in individuals suffering with cystic fibrosis due to reduced secretion of pancreatic enzymes.

Usually progressive disability is also seen in patients with cystic fibrosis due to multi-system failure. Infants and children also show symptoms of cystic fibrosis and pre-natal diagnosis of the disorder is also possible. Screening of newborns for cystic fibrosis is now a-days very effective and used frequently and at times sweat test may also be required to differentiate between infants with diseases or with carrier status. The patients with cystic fibrosis may require lung transplantation, in case the disease gets worse. Cystic fibrosis is most commonly seen in Caucasians but is not limited to any race or ethnicity and can affect anyone possessing the gene responsible to cause cystic fibrosis.