CysticFibrosis is a genetic disorder that affects the body cellsresponsible for secreting mucus, sweat and digestive juices. Innormal circumstances, the body juices are usually thin and slipperybut if someone is suffering from this condition, the body juicesappear to be thick and sticky. The sticky juices therefore, do notplay their main role of lubricating body cells instead they blockthe secretion tubes, ducts and the passage ways in respiratory,digestive and reproductive systems. is more common inNorthern European countries. Some cases also have been seen in theHispanics, African-Americans and few Native Americans but rarely inAsia and Eastern countries.
Thesigns and symptoms vary from one person to the other. They mayimprove with time or become worse depending on the diseaseprogression. The symptoms may start early during infancy whereasother people show the symptoms during adolescence and others inadulthood. The patients will have a salty tasting sweat, poor growthand weight gain. Other signs and symptoms affect the respiratory anddigestive systems. As mentioned earlier, the thick mucus may causeblockage in the tubes that pass air to and from the lungs. Thisblockage may cause lung inflammation and infections. In early stages,symptoms such as persistent cough with thick sputum, wheezing,frequent infections in the lungs, breathing difficulties and frequentnasal inflammation (Giddings 23). Over time, the symptoms mayprogress to Pneumonia, bronchitis, blood- stained cough, high bloodpressure due to pulmonary blockage and consequently heart failure dueto insufficient oxygen being transported to the heart. The thickmucus also causes blockage in the paranasal sinuses leading to sinusinfection, frequent headaches, fever and nasal drainage. About 80percent of patients with cystic fibrosis die due tocardio-respiratory complications (Giddings 24).
Thethick digestives juices also block the tubes responsible for carryingenzymes from the pancreas to the small intestines. This hinders themovement of the digestive enzymes consequently limiting theabsorption of nutrients from the food consumed by the patients. Thepatients are therefore likely to have frequent constipation, heartburns, intestinal blockage especially in infants, poor growth andweight gain and foul smelling greasy stool. The difficulties inpassing the stool may lead to rectal prolapse, whereby the largeintestines protrude outside the anus. In early times before theintroduction of newborn screening, Cystic fibrosis was diagonisedwhen the infant experienced difficulties in passing stool (Giddings25). The thickened bile secretions may also block the bile ductsleading to liver failure. Other conditions associated with the Cysticfibrosis include diabetes type 1 and 2 which results from loss ofislet cells that produce insulin responsible for regulation of bloodglucose. Similarly, malabsorption may result in poor vitamin D intakecausing osteoporosis. People suffering from this condition will alsoexperience infertility problems. Infertility is known to be moresevere in men than in women. Statistics indicate that over 90% mensuffer from infertility whereas only 20% women experience infertilityproblems (Mallet al 43). Lack of vas deference hinders the movement of sperms fromthe testes to ejaculatory ducts. Also, the thickened cervical mucusdisrupts ovulation in women.
Cysticfibrosis is caused by a mutation in Cystic fibrosis transmembraneConductance Regulator (CFTR) gene. The CFTR is a chloride ionresponsible for regulating the movement of salts in and out of cellsresulting in thick sticky mucus in the respiratory, digestive andreproductive system juices. A healthy person contains two workingcopies of CFTR gene. When only one copy of the gene is affected, theperson is an infected carrier. Children therefore need to inherit onecopy of the affected (recessive) gene from both parents to have thedisease. If they inherit one copy they will be unaffected carrier. Inthis scenario they will not inherit the disease but they can pass itover to their children (Mallet al 43). There are many mutations that can occur in the CFTR gene.The severity of the condition depends on the type of mutations. TheCystic fibrosis condition may also be as a result of protein defectswhere by the body produces de- shaped proteins which will not passover to the cells, or truncated proteins whose production waspremature or fewer copies of CFTR protein being produced. Use ofmedicine can possibly restore the protein functions.
Themajor test of Cystic fibrosis involves screening of newborns in everystate in U.S since diagnosis will allow the patient to starttreatment early. The screening involves taking a blood sample andtesting for the level of immunoreactive trypsinogen chemical releasedin the pancreas. If the levels of this chemical are higher thannormal, further tests are recommended to ascertain whether thepatient is suffering from the condition because other factors such asstrained delivery and premature birth may also raise the levels ofthis chemical. Other tests conducted include testing the sweat forsalt levels and genetic testing where DNA samples are obtained fromthe saliva or blood and is tested for defects in the CFTR gene(Powell 67). Older children and adults who frequently suffer fromconditions associated with cystic fibrosis are recommended to undergothe sweat and genetic diagnosis. In event that the tests haveconfirmed that the patient is suffering from Cystic fibrosis, suchpatients are recommended to do regular tests to manage the condition(Mallet al 53). The tests include imaging tests such as X-rays and MRI tocheck the damage of lungs and small intestines, tests to ascertainthe lung functioning, sputum tests for bacterial infections andlastly blood tests to ascertain the organ functions.
CysticFibrosis condition has no cure. The available treatment only helps tocompress the symptoms and complications resulting from cysticfibrosis. To be able to manage this condition early intervention andclose monitoring are recommended since cystic fibrosis is a lifethreatening condition. Treatment therefore, aims at controlling lunginfections using antibiotics, preventing intestinal blockage, drugsto help in loosening thick juices and supplementary nutritionprovision (Horsleyet al 43). Bronchodilators may be used to assist in air movement inthe bronchial tubes and administering oral pancreatic enzyme willfacilitate the absorption of nutrients in the digestive tract.
Tomanage the condition, the patient should undertake chest therapiesaimed at loosening the mucus in the lungs for at least three times aday. This can be done manually by clapping hands over the ribs orcan be assisted by mechanical devices such as chest clapper andinflatable vest. Secondly, pulmonary therapies which involve dailyexercise, nutritional instructions, breathing strategies andcounselling are recommended for cystic fibrosis patients. Dependingon the severity of the condition, several surgical procedures may berecommended (Horsleyet al 45). The surgical procedures will aim at removal of nasalpolyps, bowel surgery especially for newborns who develop bowelblockage, surgically implanting feeding tube in the stomach to assistin feeding, endoscopy to remove mucus from the obstructed airways andin rare cases, lung transplant may be an option (Powell 68).
Accordingto recent statistics, has been reported as the secondlife threatening inherited disorder in the US (Mallet al 54). About 30,000 Americans are suffering from the conditionwith one thousand new cases diagonised every year. One out of every3700 people born in America is diagnosed with the condition (Mallet al 56).cases affects both male and femalebabies, however, its more common in northern European decent whereone out of every 2500 births are affected.
CysticFibrosis is a life threatening disease with diverse symptomstherefore, efforts to diagonise the disease early should beinstigated so as the patients can start treatment and manage theconditions appropriately. Routine checkups should also be undertakento facilitate a prolonged life span.Patients and families are alsoadvised to work closely with doctors to develop self- managementskills that can improve their quality of life. Adults should alsotake the initiative to be tested as they might be carriers of theinfected gene to prevent them from passing it over to their siblings.
Giddings,Sharon. CysticFibrosis.New York: Chelsea House, 2009. Print.
Horsley,Alex, Steve Cunningham, and Alistair Innes. CysticFibrosis.Oxford: Oxford University Press, 2010. Print.
Mall,Marcus A, J S. Elborn, and Tobias Welte. CysticFibrosis.Sheffield: European Respiratory Society, 2014. Print.
Powell,Jillian. Explaining.London : Franklin Watts, 2013. Print.