Cystic fibrosis is a serious disease affecting mucus glands, sweat glands and secretory glands and is often inherited. It affects various organs like liver, pancreas, lungs and sex organs. It is caused due to defective gene mutation of chromosome 7. Cystic fibrosis is marked by abnormal secretion of thick mucus which would block the pathways of lungs causing severe lung infections. The symptoms are visibly noticed in childhood causing intense breathing problems. The same mucus secretion will block the tubes of pancreas causing malnutrition and digestive problems. It would also affect the sweat glands making sweat very salty.
Normally thin mucus is secreted in your body for facilitating the process of digestion and other metabolism. The main function of the mucus is to keep the organs in moist condition thus preventing infection. But due to inherited defective gene, the person will secrete thick mucus which would block the tubes and pathways in the lungs and pancreas causing life-threatening condition. Certain enzymes secreted from pancreas are essential for absorption of fats and proteins and when they are blocked totally it would lead to malnutrition.
Cystic fibrosis cannot be cured but the symptoms can be managed by effective treatments. People with cystic fibrosis are getting extended life till 30s, 40s and even 50s now due to advanced method of treatment options. Cystic fibrosis is known by several names like fibrocystic disease of pancreas, mucoviscidosis, pancreas fibrocystic disease and mucoviscidosis of pancreas.
Causes :
The main cause of cystic fibrosis is the defective gene caused during mutation. The gene responsible for making protein which would control the water and salt movements in your body is affected. When the particular protein is not working properly it would make the thin slippery mucus to thick sticky mucus thus causing more trouble.
The defective gene that causes cystic fibrosis is CFTR gene which will affect the normal body function in many ways. Defective gene CFTR is inherited from one of the parents which restrict the movement of salts in your body. Heredity is the major cause for getting cystic fibrosis. Every person will inherit two CFTR genes from his parent and if one gene is of faulty nature he will develop this disorder. Children who have one faulty gene and one normal gene are called carriers of CF. In future they may pass on the faulty gene to their children.
Symptoms :
The signs of cystic fibrosis may vary from one person to the other. Similarly the intensity of the symptoms can improve over time or worsen. For some children initial symptoms can be identified during the stage of infancy itself but for some others signs appear only during adolescence or even adulthood. Individuals with cystic fibrosis will secrete more of salt in their sweat than others. Hence you can taste salt when you kiss the child with this disorder.
Cystic fibrosis will drastically affect the respiratory system and digestive system. Children with high mucus will have repeated cough with thick sticky mucus, wheezing, and repeated lung infections. Very often, these children will have nasal inflammation and stuffy nose causing breathing difficulty.
Mucus will block the tubes of that transports certain digestive enzymes to the small intestine causing improper absorption of fats and proteins. It would lead to malnutrition. Many children with cystic fibrosis will not gain weight normally and will pass foul smelling stools and suffer from severe constipation. It can also cause blockage in the intestine in the newborns.
For some cases, it can cause rectal prolapse in which the rectum will protrude outside the anus. Men with CF will have infertility problems since the tube (vas deferens) that carries sperm to the penis region will be absent in them. Similarly women with CF will have problems in getting pregnant since excess of mucus secretion will block the narrow passage of cervix region.
In some children CF may cause imbalance of vital ions and minerals in the blood. Since the body loses heavy volumes of salt during sweating process in affected people, they would feel easily dehydrated. It can also cause rapid heartbeat, and fatigue. Some children with CF will have clubbing of fingers and toes due to low bone density which can lead to osteoporosis.
Who are at risk?