Fibrosis transmembrane conductance regulator

Cystic Fibroids

Cystic fibrosis

Cystic fibrosis is a disease that can be passed down from one generation to the other. It affects secretary glands that produce mucus and sweat. The disease results after the fibrosis transmembrane conductance regulator (CFTR) gene that is found on chromosome 7 has undergone some sort of mutation. Mutation on chromosome 7 alters the production and function of CFTR glycoprotein (Scott, 2013). Studies have identified more than 1600 variations of CFTR mutations. Significant numbers of cystic fibrosis patients have amino acid 508 defects. The amino acid 508 mutation basically occurs when CFTR protein is missing 3 base pairs at position 508 on CFTR protein sequence which codes for phenylalanine. Phenylalanine is essential in nutrition. There are other mutations that mainly occur in non-white populations (Scott, 2013). The CFTR mutations interfere with how sodium and chloride is transported on the apical surface level of exocrine gland epithelial cells. Cystic fibrosis presents in the epithelial cells of patient’s respiratory avenues, sweat glands, gastrointestinal tracts, and genitourinary systems. This causes dehydration and production of thick secretions in a number of organs. Lungs, sinuses, pancreas, intestines, hepatobiliary tree, and vas deferens are mostly affected. Nearly 5% of the entire United States population has defective CFTR gene (Scott, 2013). Worse still a bigger portion of the population are still asymptomatic carriers. This is some news that the healthcare service providers and the larger community should be worried about. Bearing in mind that this is a genetic disorder and that the number of asymptomatic carriers have not been accounted for it can as well be that over half of the United States population carries this defective gene that causes cystic fibrosis (Scott, 2013). The fact that the disease presents in epithelial cells of patient’s airways should be a worry to the healthcare practitioners. Thick secretions that are resultantly produced in the lungs are likely to interfere with patient’s respiratory system which can be fatal if not mitigated in good time. This should not be any form of news to us because we all clearly know that the lungs facilitate uptake of oxygen that is pivotal in energy transduction process and the removal of gases that are produced in the process of energy production that cannot be used by the human system (Scott, 2013).


Cystic fibrosis can be diagnosed using biochemical or genetic testing avenues. Phenotypic features like gastrointestinal and nutritional abnormalities, salt-loss syndrome, and male urogenital abnormalities could be an indication that a person is suffering cystic fibrosis (Scott, 2013). When a new borne baby suffers from intestinal obstruction where stool gets stuck in the bowel, this could be one of the earliest manifestations of the disease. Twenty percent of infants with cystic fibrosis develop this kind of obstruction. Patients with cystic fibrosis also experience chronic cough, frequent and foul smelling stools, and persistent upper respiratory infections (Starner & McCray, 2005). This could be some early indication that somebody is suffering from cystic fibrosis. They may also exhibit electrolyte imbalance, nasal polyps and sinus disease, rectal prolapse, and reproductive complications. Adults with cystic fibrosis tend to live longer and therefore develop non-respiratory symptoms. Children with cystic fibrosis are diagnosed by the age of one year. Coughing is predominant in early stages of this disease. Children with ages below ten months experience chronic coughing.

A number of tests can be performed when cystic fibrosis is suspected. Such tests include prenatal genetic testing, ultrasonography, and amniocentesis. The most frequently used test is a sweat chloride test. The test is facilitated by stimulating the sweat glands of the patient’s forearm or thigh with pilocarpine. Sweat is subsequently collected and analyzed to determine the chloride level. Chloride levels greater than 60 mmol/L in patients older than 6 months indicates the presence of the disease. Chloride levels up to 39 mmol/L are considered normal (Scott, 2013). In infants younger than 6 months sweat chloride levels less than 30 mmol/L are considered normal. One percent of patients with unusual genotypes of cystic fibrosis have normal sweat chloride concentrations. After a genetic test has been conducted and the result shows 2 CFTR mutations a second sweat test has to be conducted to confirm presence of cystic fibrosis in these patients. Other diagnostic tests should be employed in case sweat chloride tests are inconclusive. Nasal potential difference should therefore be performed (Scott, 2013). Other tests to be done incase of inconclusive sweat chloride tests should be the CT of the chest and the sinuses, bronchoscopy with bronchial lavage to culture bacteria, in the lower airway, pancreatic imaging, and ultrasonography of the vas deferens in male patients. Some modern neonatal screening tests can be done to help in proactive treatment of cystic fibrosis (Scott, 2013). This kind of test helps in preventing symptoms before they appear. This test helps in evaluation of immunoreactive trypsinogen levels. It also involves analysis of deoxyribonucleic acid for CFTR mutations. Early detection of cystic fibrosis in children has massive health benefit to these children especially under circumstances when neonatal screening is used to diagnose the disease.

Patients with cystic fibrosis are subjected to medical imaging examination as it helps in monitoring the disease pathologic changes. Cystic fibrosis patients are more likely to develop thoracic, digestive tract, kidney and thyroid cancer because of they are exposed to ionizing radiation (Jones & Helm, 2009). Because female organs are more radio — sensitive women patients with cystic fibrosis have increased incidence risk ratio for all cancers. Patients with cystic fibrosis mainly succumb to respiratory fatalities. These patients should therefore be subjected to frequent diagnostic imaging of their gastrointestinal system to amicably address this disease’s GI manifestations. Children should not be exposed to too much radiation. Low-dose cystic fibrosis protocols for children with smaller body habitus are encouraged (Jones & Helm, 2009). Radiation exposure can also be reduced by minimizing unnecessary supra-apical and infrapulmonary imaging on CT scans. Thyroid and breast cancer shields are also effective when pediatric patients are subjected to radiographic and CT studies.

Some of the respiratory manifestations of cystic fibrosis are presence of thickened secretions that come about when there is too much chloride and too much sodium transport from the mucous. Sticky mucus obstructs airflow in bronchioles and small bronchi (Gould, 2002). With time patients develop bronchiectasis. This results into loss of elasticity, muscle integrity, and cartilage. Impaired mucociliary clearance causes stagnant mucous to harbor bacterial growth and infection. Mucous plugs the airways and encourages persistence of bacteria and airway damage. Production of highly viscous secretions blocks the airways and promotes vasoconstriction of micro vessels leading to altered ventilation-perfusion (Gould, 2002).

Chest radiography is one of the preferred methods used in initial evaluation of respiratory disease related to cystic fibrosis because it requires low radiation dose. Other method used is sinus imaging that is used to ascertain degree of sinus impairment. Computed tomography helps in displaying subtle changes and localized disease (Rossi & Owens, 2005). It helps in evaluation of bronchochiectasis and tracheobronchial anatomy. Magnetic resonance imaging is also used in evaluation of patients with cystic fibrosis. It is appropriate for vascular and mediastinal anatomy evaluation. Other methods used include nuclear medicine scintigraphy which basically gives information about perfusion and ventilation, positron emission tomography, ultrasonography, and interventional radiology (Rossi & Owens, 2005).


Treatment regimes are directed at preventing upper respiratory infections which are responsible for highest number of deaths in people with cystic fibrosis. Medications include mucolytic agents and bronchodilators which are used to thin out the thick tenacious mucous. Use of broad spectrum prophylactic antibiotics is also recommended (Scott, 2013). Postural drainage, percussion, coughing techniques, and breathing exercises also help patients dislodge secretions. Antibiotics treat the primary stimulus. Patients with mild lung disease can use corticosteroids especially those that are inhaled (Scott, 2013). High dose ibuprofen can be used to inhibit lung deterioration. Bronchial artery embolization helps in treating significant hemoptysis. Other treatment regimes involve direct delivery of glycerin and amphotericin B. via intracavitary percutaneous instillation with CT guidance and lung transplantation (Scott, 2013).


To access information about this disease I typed Google scholar into Google search engine. Into the Google Scholar home page I typed cystic fibroids. A host or researches that had been done on cystic fibroids appeared ranging from systematic reviews to peer reviewed scientific journal articles appeared. I chose recent journal publications and systematic reviews. Publications from reputable scientific research bodies majoring on human health research like the Center for Disease Control were also considered. I did use some academic databases like NCBI. However, the only problem I encountered with them was that subscription was a requisite. There was no problem when it came to narrowing down on one particular search because I knew cystic fibrosis was one major respiratory challenge to many.

Case study

A patient was brought to the hospital I was undergoing clinical practice who was suffering from intestinal obstruction. This patient exhibited some other symptoms. He had sticky mucous that accumulated and obstructed airflow in bronchioles and small bronchi. The chronic inflammation caused loss of elasticity, muscle integrity, and cartilage in the lungs. Stagnant mucus was suspected to have encouraged bacterial growth in the bronchioles. The surrounding airway parenchyma was damaged. Mucus viscosity kept decreasing as the patient kept coming for observation. The patient experienced altered ventilation-perfusion where air was trapped in the lungs. Air sacs were severely enlarged. These manifestations made me feel that the patient might be suffering from cystic fibrosis. I recommended that the patient be taken through a series of tests including CT to ascertain this.


The information I have learnt about cystic fibrosis has made me realize how serious cystic fibrosis is. Studies have shown that it affects about 5% of the United States population and a significant population has remained asymptomatic. I feel that more research should be done on this respiratory complication that decimates a significant portion of the population with regard to upper respiratory infections. I have also realized that there are a number of methods that can be used in diagnosing cystic fibrosis some of which include chest radiography, computed tomography, sinus imaging, and magnetic resonance to mention but a few. It is the discretion of a clinical officer to ascertain the most appropriate diagnostic regime depending on the symptoms that are exhibited.

There is no single diagnostic regime that can be used across the board to diagnose cystic fibrosis. This is an area where further research should heavily investigate to save patients who may not be having the resources to facilitate carrying out of the many tests involved.

References List

Gould, B.E. (2002). Pathophysiology for the Health Professions.

Philadelphia, PA: Saunders.

Jones, A.M. & Helm, J.M. (2009). Emerging treatments in cystic fibrosis.

Drugs. 69(14), 1903-1910.

Rossi, U.G. & Owens, C.M. (2005). The radiology of chronic lung disease in children. Arch Dis Child. 90(6), 601-607.

Scott, A. (2013). Cystic Fibrosis. Radiologic Technology, 84(5), 493-518.

Starner, T.D, McCray, P.B. (2005). Pathogenesis of early lung disease in cystic fibrosis: a window of opportunity to eradicate bacteria.

Annals of Internal Medicine, 143(11), 816-822.

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