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Cystic Fibrosis

CysticFibrosis

Summary

CysticFibrosis is one of the conditions that re not common among thecitizens. Its history dates back to the 16th century when doctorsassociated the salty skin with a non-functional pancreas. CysticFibrosis is a result of gene mutation in the CTFR protein that isresponsible for the removal of sweat. The mutation results intruncated proteins that cannot perform the function effectively. Apart from having a salty tasting skin, individuals present withblocked airways and ducts. The body produces thick mucus that makesbreathing difficult. It also blocks the narrow passages in thepancreas and the liver. The secondary symptoms include consistentrespiratory infections and bowel discomforts. Children experiencestunted growth due to the poor uptake of nutrients in the smallintestines. Males become infertile as a result of the blockage of thevas deferens leading to the absence of sperms in semen. In females,the mucus in the cervix becomes thick to the extent of creating abarrier for sperms. The primary management of the condition includesthe treatment of the respiratory infections using antibiotics.Patients are also put under chest physiotherapy to expel the mucus.When the organs fail, transplantation is recommended for lungs,pancreas and liver. The prognosis of the condition has improved overthe years. The life expectancy of the patients has increased to 28.9years, and it is projected to increase by 2020. The medicalexperiments being carried out by different institutions are expectedto yield more effective measures that will improve the quality oflife of the patients.

Introduction

Afew centuries ago, human beings were not acquainted with cysticfibrosis although the disease had resulted in thousands offatalities. The disease was even captured in a European folklore thatstated that “Woe is the child who tastes salty from a kiss on thebrow, for he is cursed and soon must die” (Eckford et al., 2012).This depicts that the condition was not comprehensible to people indifferent parts of the world in the middle ages. There is alsoevidence in medical texts scripted in 1595 that associated a saltyskin with a non-functional pancreas and the death of infants who were“bewitched.” It was only in 1938nwhen Dorothy Andersen anAmerican pathologist provided the earliest explanations of thecondition in her medical literature. From her autopsy of children whohad died of malnutrition, she described it as the cystic fibrosis ofthe pancreas. Other physicians referred to the condition asmuucooviscidosis due to the presence of thickened mucus in thepatients. In 1980’s, a New York Hospital was able to associatechildren with a salty skin with cystic fibrosis. In 1989, the defectwas described as genetically instigated, and doctors sequenced itsgenetic code. Since then, new therapies have been devised to dealwith the disease. Additionally, medical bodies and institutions haveincreased the awareness among the populations to reduce the number offatalities.

Etiologyand definition of

CysticFibrosis is a genetic sickness that distresses the lungs, kidneys,pancreas, liver and the intestines. Scientists indicate that thecondition is recessively inherited and it is caused by thealterations in the genes for the cystic fibrosis transmembraneconductance regulator (CFTR). Persons who have a one copy of the genebecome carriers, and they do not present any symptoms. CFTR isresponsible for the production of sweat, mucus, and other digestivefluids. About 98% of all the cystic fibrosis cases are caused by thedeletion of the 508th position of the protein (Eckford et al., 2012).These results in the loss of a protein referred to as phenylalanine.Research, however, indicates that the condition can result from other1500 mutations. Most of the people have two copies of functioningCTFR alleles, and only one is required to prevent the occurrence ofcystic fibrosis. The condition develops when none of the two allelesproduces CTFR functional protein (Eckford et al., 2012). Thischaracteristic of the allele makes the condition to be termed as anautosomal recessive disease. Failure to functions result into thesecretions becoming thick, and it can be diagnosed through sweat orgenetic testing.

Inthe United States, about 1 in every 31, 000 people suffer from CF andabout 1, 000 babies are born with the condition every year. TheCenter for Disease Control and Prevention has identified the diseaseas one of the most lethal genetic conditions. Statistics alsoindicate that about 8 million Americans are carriers. The fatalitiesin the country are about 484 per year (Eckford et al., 2012).

RiskFactors of

Riskfactors are the aspects that make an individual susceptible to agiven condition. Understanding them helps physicians to identify thevulnerable people in a given population and offer preventive measurewhere necessary. The primary risk factor for CF is having two parentswho are carriers of the alleles. Although children born of suchparents have high chances of developing the condition, there areseveral factors that determine the severity of the disease.Physicians divide the severity into five classes. Classes 1, 2 &amp3 are severe, and they cause classic CF. on the other hand, category4 and 5 has milder implications (Eckford et al., 2012).

Theenvironment and lifestyle assumed by an individual with the conditionhave an impact on the symptoms. The victims need to consume largeamounts of calories to maintain weight and growth. Engaging inphysical activities strengthens the lungs, and this prevents thesymptoms from becoming more severe. In addition, an environment thathas a high concentration of second-hand smoke can worsen thecondition of the lungs and the signs van become full blown. Researchalso indicates that age is also a factor of vulnerability for CF. Aspeople advance in years, the deterioration of the affected organsincluding the liver, lungs, and pancreas worsen unlike in children(Sly et al., 2013).

Mechanismof

Thedifferent mutations that can occur in the genes can lead to variousdefects in the CTFR protein. This explains the severe and milderconditions. The 508 CTFR proteins occur in more than 90% of thepatients. Its laceration results in a protein that is not conveyed tothe membrane leading to degradation. Consequent mutations lead totruncated genes because they end prematurely.

Thegenerated protein attaches itself to the sweat glands, lungs,pancreas and other exocrine organs. It instigates the membrane to actas a channel for connecting to the cytoplasm. The channel controlsthe movement of halogens in and out of the cell. In the sweat gland,the protein leads the movement of chlorine into the cytoplasm. Whenthe CTFR protein fails to reabsorb the ions found in the sweet duct,it is pumped into the skin resulting to the salty tasting. The damageobserved in individuals suffering from the mutation is sometimes dueto the blockage of the passes by the thickened body secretions(Eckford et al., 2012). This leads to the accumulation of digestiveenzymes in the pancreas and liver.

Signsand Symptoms of

Physicianslook for various symptoms to diagnose the condition. The common onesinclude a salty-tasting skin, stunted growth, delayed weight gain,accumulation of thick mucus in the narrow passages, shortness ofbreath and coughing. In males, infertility may be observed as aresult of blockage of the vas deferens. In addition, bowel discomfortand obstruction may occur in infants as a result of meconium ileus(Eckford et al., 2012). However, as they grow they become active, andthey release the mucus into the alveoli. Children may also havestunted growth due to repeated lung infection, poor uptake ofnutrients and increased metabolism.

SecondaryComplications of

Thereare various complications associated with CF. The patients haverepeated respiratory infections throughout their lives. They maydevelop nasal polyps that may require a surgical removal. Due to thedegeneration of pancreatic tissues the patients experience asustained poor weight gain. Also, the continue production of thickfluids obstructs the movement of food in the intestines leading toconsistent bowel discomforts. The secondary complications can also beobserved in the reproductive tract. They include delayed puberty as aresult of nutritional inadequacies. Male and female infertility alsooccurs. In makes the absence of sperm in semen due to the obstructionof the vans deferens makes them unable to sire children. In females,the thick cervical mucus hinders the movement of the sperms, and thisprevents conception.

Prognosisof

Theprognosis for patients suffering from the condition has improved overthe last few years due to the medical discoveries that haveintensified the impact of therapies. In the United States, the mediansurvival age has increased to 28.9 years. This shows massivedevelopment in the 21st century. For instance, in 1956, the mediansurvival age for children with CF was six months only. By 2020, theCenter for Disease Control and Prevention predicts that female andmale patients will be living up to 40 and 37 years respectively.Statistics from CDC also indicates that for those who are above 18years, 92% had completed high school and 67% had a college education.Additionally, 15% are disabled while 56% and 39% are single andmarried respectively (Rowe ET AL., 2014).

Prevention,Treatment, and Management of

Whilethere is no known cure for cystic fibrosis, physicians have developedeffective management strategies that enable patients to live forlong. The proactive treatment includes addressing the blockage of theairway and the infections. This is followed by a consistent pulmonaryrehabilitation that takes place throughout the life of an individual.This limits the damage caused by thick mucus (Regelmann, et al.,2013). Oral antibiotics and proper nutrition are the primary methodsof treating the infections.

Physiciansalso prescribe antibiotics for patients who take them even when theyare healthy. The prophylactic effect counters the early symptoms ofpneumonia. The doctors may also recommend them when they discoverdecreased lung function among the patients. In such scenarios,patients are put under tobramycin, colistin and aztreonam.Occasionally the therapy necessitates the insertion of a peripherallyinserted central catheter. To dislodge the mucus in the lungs,individuals suffering from CF undergo chest physiotherapy. Variousdevices including therapy vest and the intrapulmonary percussiveventilator are applied in the process. The degeneration of the lungsmay require the patient to be put under mechanical breathing systems.During sleep, they may put on masks to prevent low oxygen levels inthe blood.

Transplantationis a secondary measure considered when the organs fail. However, forindividuals suffering from CF, the transplantation of both lungs isrequired since the remaining one may infect the newly acquired one.The other organs including the liver and the pancreas may also bereplaced. Such measures have been instrumental in ensuring qualitylife among the patients (Boyle et l., 2014). The medical innovationsin progress are expected to come up with more effective and lessdemanding measures that will increase the median age of survival.

References

Boyle,M. P., Bell, S. C., Konstan, M. W., McColley, S. A., Rowe, S. M.,Rietschel, E., &amp VX09-809-102 study group. (2014). A CFTRcorrector (lumacaftor) and a CFTR potentiator (ivacaftor) fortreatment of patients with cystic fibrosis who have a phe508del CFTRmutation: a phase 2 randomised controlled trial. TheLancet Respiratory Medicine,2(7),527-538.

Eckford,P. D., Li, C., Ramjeesingh, M., &amp Bear, C. E. (2012). Cysticfibrosis transmembrane conductance regulator (CFTR) potentiatorVX-770 (ivacaftor) opens the defective channel gate of mutant CFTR ina phosphorylation-dependent but ATP-independent manner. Journalof Biological Chemistry,287(44),36639-36649.

MogayzelJr, P. J., Naureckas, E. T., Robinson, K. A., Mueller, G.,Hadjiliadis, D., Hoag, J. B., … &amp Marshall, B. (2013). Cysticfibrosis pulmonary guidelines: chronic medications for maintenance oflung health. Americanjournal of respiratory and critical care medicine,187(7),680-689.

Regelmann,W. E., Schechter, M. S., Wagener, J. S., Morgan, W. J., Pasta, D. J.,Elkin, E. P., &amp Konstan, M. W. (2013). Pulmonary exacerbations incystic fibrosis: young children with characteristic signs andsymptoms. Pediatricpulmonology,48(7),649-657.

Rowe,S. M., Heltshe, S. L., Gonska, T., Donaldson, S. H., Borowitz, D.,Gelfond, D., &amp Joseloff, E. (2014). Clinical mechanism of thecystic fibrosis transmembrane conductance regulator potentiatorivacaftor in G551D-mediated cystic fibrosis. Americanjournal of respiratory and critical care medicine,190(2),175-184.

Sly,P. D., Gangell, C. L., Chen, L., Ware, R. S., Ranganathan, S., Mott,L. S., &amp Stick, S. M. (2013). Risk factors for bronchiectasis inchildren with cystic fibrosis. NewEngland Journal of Medicine,368(21),1963-1970.