Causes of cystic fibrosis

Cystic Fibrosis Overview

Cystic fibrosis is inherited, chronic illness that affects secretory glands. The affected glands normally produce mucus and sweat which is not the case in cystic fibrosis. In people who are suffering from this disease pancreas and lungs are most commonly affected although the function of other organs such as liver, intestines, sinuses or genital organ can be damaged as well.

The mucus is normal product of human body and it is supposed be slippery and watery. In patients suffering from cystic fibrosis the mucus is thick and like a plug blocks the ducts of certain organs causing specific symptoms of the disease. The blockage additionally leads to infection and the infection is what majority of patients have to constantly deal with. This particularly refers to lung infections. Furthermore, mucus blocks pancreatic ducts not allowing pancreatic enzymes to enter small intestines. Therefore patients suffer from undernourishment caused by improper digestion. Patients commonly complain about bulky stools, flatulence and loss of weight.

Patients suffering from cystic fibrosis feature with one specific characteristic. Namely, their sweat is rich in sodium. This is exploited in tests on this illness where specific level of the presence of sodium in sweat can be helpful in confirmation of the disease. The excessive loss of sodium additionally leads to imbalance of electrolytes and dehydration, low blood pressure, heat stroke and rapid heart rate. If left untreated extreme hyponatriemia can lead to death.

People suffering from cystic fibrosis are also more susceptible to diabetes mellitus and osteoporosis.

The Cause of Cystic Fibrosis

Cystic fibrosis is genetic disease. So the cause lies in damage of the genes. Parents transmit the defective gene to their children. The specific gene is in charge with production of a protein that regulates the transfer of sodium and water between cells and their surrounding. Imbalance of water and salt leads to thick and sticky mucus and the consequent complications of the disease.

For person to get the disease it is necessary to inherit two defect genes, one from mother and the other from father. These parents are only carriers and cannot get the disease. They are able only to pass cystic fibrosis onto their children.

Prognosis of Cystic Fibrosis

The intensity of symptoms varies drastically from patient to patient. There are rather mild forms of the disease. On the other hand, some children die young due to lung and pancreatic complications of the diseases.

Consolation can be found in advanced treatment modalities which can fight effectively with some of the complications of the disease and prolong patients' lives for certain time.