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.
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.
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?
Cystic fibrosis occurs on both sexes and affecting equally people of all races and groups. It is widely present in Caucasian community, Latin Americans and people of Pueblo and Zuni. It is estimated that over 10 million American people remain as carriers of faulty gene CFTR. Individuals with family history of CF have more risk of developing this problem than others.
The sticky mucus can cause plenty of problems in normal metabolic activities and it influences respiratory system, digestive system and reproductive system.
Some of the complications related to respiratory system are given below:-
Lung infections are very common in CF children. Due to the presence of thick mucus bacteria and fungi can infect the lungs causing sinusitis and bronchitis. CF can cause bronchiectasis which destroys the airways making it difficult to breathe. Nasal polyps are yet another problem caused by cystic fibrosis which causes inflammation of nose. The affected child may cough up blood due to thinning of airways. Repeated lung infections can cause severe damage to the lung tissues which would worsen its functions causing life threatening conditions.
Complications of Digestive System :
Deficiency of nutrition is the worst problem caused by CF. Since the tubes of intestine are blocked by thick mucus they cannot transport all digestive enzymes necessary for absorption of proteins and fats. CF can cause increase in blood sugar levels making the person risk of getting diabetes. Cystic fibrosis will cause inflammation of liver by blocking the bile duct. In rare cases, due to chronic constipation it can cause rectal prolapsed which can be corrected by surgery.
Reproductive System Complications :
Men with CF will become totally infertile since the tube that passes on the sperms to the penis will get blocked by thick mucus. It can be operated for correcting the problem. Women may have problem in pregnancy due to CF.
Nowadays every newborn is screened for cystic fibrosis in the USA to eliminate certain complications in the stage of infancy. Blood sample is taken for testing the levels of immune-reactive trypsinogen secreted by pancreas. Sweat test is taken to check the content of salt in the sweat glands. Any abnormal increase in salt content shows the presence of CF. DNA samples are taken from the blood and checked for defective genes.
All the above tests can be done on newborn who are suspected to have cystic fibrosis. Even for adults sweat tests and DNA testing are the major tests done for diagnosing CF after ascertaining the symptoms of respiratory problem and digestive problem. In addition, imaging tests like CT scanning, MRI and X-rays are taken. Sputum culture is done for detecting the presence of bacteria. He may also order for liver function test and tests for measuring functions of pancreas.
At present there is no permanent cure for cystic fibrosis. Medications and surgeries can be done for reducing the intensity of symptoms. The patient should be closely monitored for the entire life for preventing any further complications. With advanced medications the life expectancy of people affected with cystic fibrosis have increased to 40-50 years.
The major aim of providing treatment is to preventing lung infections, preventing intestinal block, and removing excess of mucus from the body. Antibiotics are prescribed for controlling lung infections. Medications are given for thinning the mucus to improve lung functions. Your doctor may suggest using bronchodilators for relaxing the blocked nasal passage and bronchial tubes.
Supplementary enzymes are given orally for helping the process of digestion and absorption of food and nutrients. Chest therapy is given for loosening the mucus so that it becomes easy to spit it out. For some children, chest clapper, inflatable vest and other mechanical devices are given for facilitating normal breathing. Pulmonary rehabilitation is done for improving lung functions. Several kinds of breathing techniques are administered for improved breathing. Exercises are given for conserving energy and to aid loss of nutrition additional nutrients are included in daily diet. Psychological counseling is given for affected children and parents.
Invasive procedure is done for removing excess of mucus that blocks the airways. Mucus can be sucked out through endoscopic procedure to clear the airways. Oxygen therapy is given for improving blood oxygen levels. To avoid repeated lung infections, lung transplant surgery is done for severe cases. But it may not be successful and the person may have reduced life. For eliminating digestion problems feeding tube is inserted directly to the stomach for providing extra nutrition that the body requires. Bowel surgery is done for clearing the blockage in the path of bowel movement.
Coping and Support :
You can get in touch with people living with this dreadful disorder so that you are not alone. Work closely with counselors and doctors to learn how to manage cystic fibrosis. You need to make regular visits to your doctor and continue taking medications for the rest of your life.
Changes in Lifestyle :
You can minimize the risk of getting infected by following certain rules and making small changes in your present lifestyle. You should know about the right set of nutrition you need to take to prevent malnourishment. You should take 50% more calories than healthy adult for avoiding malnutrition.
Discuss with your doctor to include supplementary nutrition in your daily diet, special fat soluble vitamins and extra fiber to avoid constipation and intestinal block. Drink plenty of water and liquids to prevent dehydration. Exercise regularly to loosen the mucus blocked in the lungs and airways. Consult your doctor before starting any exercise regimen.
Quit smoking in any form since it can aggravate the symptoms causing severe lung infections. Avoid getting infected by washing hands thoroughly and getting vaccinated properly. To manage anxiety and emotional issues of cystic fibrosis you can get in touch with professional psychologists and counselors. Practice yoga and meditation techniques regularly.
Every person can undergo genetic testing before planning for a child. This will drastically reduce the risk of having a child with CF. At present prenatal screening is done in many states of America to prepare the mother and father for receiving a child with cystic fibrosis.