Cystic fibrosis is an inherited disease that causes severe damage to the lungs and digestive system. Cells that normally produce thin and slippery mucus, sweat, and digestive juices are damaged and the secretions produced are thick and sticky. When the secretions become thick and sticky, they do not function as a lubricant and the ducts and passageways become clogged up. The lungs and the pancreas are especially affected by this. In the lungs, the sticky mucus will clog the lungs which can lead to life-threatening lung infections. In the pancreas, the sticky mucus stops natural enzymes from breaking down and absorbing the food.
People with cystic fibrosis can have a variety of symptoms. Symptoms dealing with the digestive system may include nausea and loss of appetite, weight loss, belly pain from severe constipation, pale colored stools, foul smelling and greasy stools, or a distended stomach. Symptoms dealing with the respiratory system may include constant coughing with an increase in mucus, shortness of breath, fatigue or inability to exercise, inflamed nasal passages, wheezing, or repeated lung infections. Symptoms may depend on the severity of the disease and they can occur at different stages in life. Newborns that experience a failure to gain weight normally, show a delayed growth pattern, do not have bowel movements in the first 24-48 hours of life, or have salty-tasting skin may be showing early signs of cystic fibrosis.
Cystic fibrosis is a disease caused by a recessive gene that is inherited by their parents. The disease requires one copy of the gene from each parent. Millions of Americans carry the defective gene, but they do not develop the disease because they only carry one gene. Even if they don’t develop the disease, they are still a carrier and have the possibility of passing it on to their children.
The most cases of the disease and strongest cases are usually diagnosed in children by the age of two. If the disease is diagnosed after the childhood years, it is usually a milder case. There are a few tests that are generally used to test for cystic fibrosis. The newborn screening takes a blood sample and tests the levels of immunoreactive trypsinogen (IRT). Since a stressful delivery or an early birth can cause the IRT levels to be high, a sweat test or a genetic test can be also be preformed. The sweat test will test for levels of salt in the patient. If the salt levels are high, it could be an indication of the disease. Genetic testing takes DNA samples from either blood or saliva to see if there are special defects on the gene.
Although there are no current cures for cystic fibrosis, early diagnosis and a treatment plan can help improve the quality and span of life. To help treat the respiratory system, antibiotics can help prevent and control lung infections and mucus thinners can help thin the mucus so that it can be coughed out easier. Inhaled medicines, such as bronchodilators, help open the airway to make it easier to breathe. To help the digestive system, oral pancreatic enzymes can be ingested to help breakdown food so that the fats and proteins can be absorbed. Preventing cystic fibrosis is impossible, but by screening family history of the disease, you have the possibility of detecting the gene in a large percentage of the carriers.
Cystic fibrosis can be a physically and emotionally difficult time for both the person infected by the disease and any family of the person. With the right knowledge, diagnosis, and treatments, it can help make life more tolerable for a person with cystic fibrosis.
References
Cystic Fibrosis Foundation. http://www.cff.org/AboutCF/Faqs/
PubMed Health. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/
Mayo Clinic. http://www.mayoclinic.com/health/cystic-fibrosis/DS00287
