Abstract
Cystic fibrosis is an autosomal recessive genetic problem with major infections to lungs, pancres, intestine and liver. The main characteristic of the disease is abnormal transport of chloride, and sodium in the epithelium leading to thick secretions.
It usually results from mutation in the gene for a protein known as cystic fibrosis trans-membrane conductance regulator (CFTR). This is a hormone which is usually involved in various body excretion processes. The main method of transmission of the disease is through genes. However, research has proved that it can be still transferred among people with no DNA connection
The disease is extremely common among Europeans and some Americans. Initially, the disease was extremely dangerous among these people. However, research has led to invention of excellent treatment techniques that have made the disease fully controllable.
Improper treatment of the disease leads to development of complications. These complications are; infertility, lungs disease and sinuses, endocrine, and gastrointestinal infections. However, following the extensive increase in the disease’s infections new strategies have been undertaken to control the disease, when children are young. However, research continues on the potential of doctors’ intervention in controlling the disease.
Cystic fibrosis (CF) is also referred to as mucoviscidosis. It is an autosomal recessive genetic disorder that mainly affects lungs, pancreas, intestine, and liver. The name cystic fibrosis defines the characteristic scarring, as well as cyst development within the pancreas. The disorder was first realized in 1930s after a lot of people suffered in silence. The disease is usually characterized with irregular transport of chloride, as well as sodium across the epithelium causing thick viscous secretions (Accurso & Sontag, 2008).
Etiology
CF is mainly as a result of a mutation in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). This is the protein mainly concerned with the regulation of secretions such as mucus, sweat, and digestive fluids. The protein is major regulator of sodium ions and chloride movement across epithelial membranes, like the alveolar epithelia which is located in the lungs. Most persons without CF have two functional copies of the CFTR gene, and the two copies must be absent for development of CF following the recessive nature of the disorder. CF develops when none of the copies works normally following mutation thus it has an autosomal recessive inheritance (Accurso & Sontag, 2008).
Cystic fibrosis is transmitted genetically in form of mendelian recessive element. Approximately 80% of the gene mutations that lead to cystic fibrosis (CF) have been realized. It has now been identified that the gene of cystic fibrosis is found on chromosome 7. It is through this chromosome that the CFTR is encoded. The mutation that is involved in the development of this disease is referred to as delta F508 (Accurso & Sontag, 2008).
The disease is mainly common among persons of Central and Northern European origin. However, this has not prevented its fame in other demographic groups in different parts of the world. CF is extremely rare in Middle East and Asia. Cystic fibrosis patients may be diagnosed before birth through genetic testing and sweat test, in early age of development (Ball, 2007).
Typical complications
Like any other disease, CF is marked by a set of signs and symptoms such as poor growth , excessive weight gain even after normal eating habit, as well as salty tasting skin, accumulation of thick and sticky mucus, continuous infections in the chest, as well as incessant chest infections, and excessive coughing. Symptoms are usually evident in childhood and infancy. They may appear as bowel obstruction as a result of meconium ileus in newborns. The patient contains the ciliated epithelial cells, which leads to the mutated protein that causes production of abnormally viscous mucus. The poor growth among children causes improper ability to gain weight as well as height. Also, cystic fibrosis may appear as a coagulation disorder, which is extensively influential to poor growth of a child (Ball, 2007). If the symptoms are not treated early enough, the patient may develop extensive complications.
Lungs disease and sinuses
Lung disease is usually as a result of airways’ clogging following mucus build-up, reduced mucociliary clearance, as well as resulting inflammation. Inflammation and infection will usually lead to injury and structural changes to the lungs, causing a range of symptoms. At early stages of the disease, incessant coughing, decreased exercise ability and copious phlegm production are common. In most cases, these symptoms take place when bacteria that usually reside in the thick mucus grow out of control and lead to pneumonia. In afterward stages, changes in the structure of the lung like pathology in bronchiectasis extend difficulties in breathing. Other symptoms of the lung disease are coughing of blood, pulmonary hypertension, heart failure, respiratory failure calling for breathing masks’ support, as well as hypoxia.
There are three most common organisms that cause lung infections among cystic fibrosis patients; Haemophilus influenza, Staphylococcus aureus, as well as Pseudomonas aeruginosa. Following xposure to extensive bacterial infections, CF patients develop other types of lung disease. One of them is allergic bronchopulmonary aspergillosis where the bodu tries to respond to fungus Aspergillus fumigatus that worsens breathing difficulties. The second one is Mycobacterium avium complex infection, which is a group of bacteria connected to tuberculosis, which can lead to extensive lung damage. It is not treated by common antibiotics (Ball, 2007).
Blockage of the sinus passages is major complication of CF. This usually happens following existence of extensively thick paranasal sinuses that blocks the sinus. People with the disease may develop nasal polyps which is the overgrowth of the nasal tissue following inflammation resulting from infections of chronic infections.
Endocrine
This is the other complication of CF among its patients. The pancreas is made up of islet Langerhans, whose role is manufacturing Insulin, which is a hormone responsible of regulating blood glucose. Damage of the pancreas may cause loss of the islet cells, which may lead to a certain diabetes that is identical among CF patients. One of the main non-pulmonary complications of CF is the cystic fibrosis-related diabetes (CFRD). This complication shares characteristics with type 1 and type 2 diabetes. Vitamin D is usually crucial in the body of a human being as it is involved in the regulation of phosphate and calcium. Poor uptake of Vitamin D from the diet following malabsorption may lead osteoporosis, which is a bone disease, where bones which are already weak are exposed to easy fractures. Also, CF patients may develop clubbing of their fingers as well as toes following the effects of chronic illness and low oxygen in their tissues (Ball, 2007).
Gastrointestinal
Before prenatal and newborn screening methods were invented, cystic fibrosis was usually diagnosed following the inability of a newborn to pass feces, which is also known as meconium. Feces may block the intestines entirely leading to serious illness. This condition is known as meconium ileus. Also, protrusion of internal rectal membranes may be a common case. It usually results from accumulation of fecal materials, malnutrition, as well as increased intra-abdominal pressure as a result of coughing (Fundukian, 2010).
The pancreas also produces thickened secretions, which contributes extensively to gastrointestinal. These secretions block the exocrine movement of the digestive enzymes into the duodenum and lead to incurable pancreas damage, which is usually characterized with extensively painful inflammation. Infections of the pancreatic ducts usually lead to exocrine glands and progressive fibrosis atrophy.
Infertility
This affects both men and women. Approximately, 97% of cystic fibrosis infected men are infertile. However, they are not sterile as they can have children through assisted reproductive methods. The main cause of infertility among men with cystic fibrosis is the vas deferens congenital absence. Various men who been found to have congenital lack of the vas deferens in test for infertility have previously been diagnosed of CF. Women may get fertility difficulties following thickened cervical mucus or malnutrition. In harsh cases, malnutrition disrupts ovulation, as well as leading to amenorrhea (Fundukian, 2010).
Prognosis
Cystic fibrosis’ prognosis has improved following earlier diagnosis in form of screening, access to proper health care, and excellent treatment. It is approximated that in early years like 1959, the median survival age for children infected with cystic fibrosis in the US was 6 months. However, as treatment programs advanced, survival rate rose to 37.4 years in 2008. In Canada in the year 2007, the survival rate rose to47.7 years from 24 years in 1982.This is an indication that there were measures that were being undertaken to ensure the disease did not cumulatively kill many people.
Out of those people diagnosed with the disease who were above 18 years of age in 2009, approximately 92% of them had graduated from high school. Nearly 67 % had at least some college education, while approximately 15 % were disabled with 9 % being unemployed. Approximately 56% were single while 39% were living with a partner of were married (Fundukian, 2010).Following lack or high cost of adequate medication Russia has CF patients at an average age of 25. However, countries with excellent medical facilities that can support services such as lung transplant are likely to save most of its patients. Therefore, medical ability of a country would be extremely useful in determining the prognosis of cystic fibrosis (Férec & Lehn, 2009).
Current treatment plans, current research and development
Following the complexity of the disease, unique treatment strategies have been improvised. After diagnosis of the disease in a child, a health professionals’ team will build a treatment plan according to the specific problems of the child. Treatment is unique for everyone but it has to involve a combination of medicines and home treatment. Among home treatments are removing mucus, eating healthy food as well as exercising for infections and complications prevention. Following a treatment plan is usually challenging but doing it helps a child to live for a long time and healthy (WebMD, 2013).
The best treatment that has been availed is general use of cystic fibrosis multidisciplinary specialist centers. These centers assist in addressing medical, nutritional, as well as emotional needs of people diagnosed with cystic fibrosis. Also, support groups, and counseling departments have been enacted to educate people about the disease and it has been extremely helpful (WebMD, 2013).
The development of proper ways to treat the disease has been fashioned through extensive research on the possible causes of the disease. The research aims at ensuring that the public becomes well aware of the factors that may highly contribute to the disease. Immunization processes have been researched on extensively as they are observed as major causes of the disease. Improper immunization to certain diseases exposes the children to excessive risk of contracting CF (Rosaler, 2010). Also, monitoring the weight of a child with time pauses a great merit in understanding what should be done to deal with the CF condition. The doctor should help the parent understand whether the weight, height and head size of the child in order to keep track of how a child develops. This is a major step towards understanding how safe a child is from CF (Giddings, 2009).
Also, different therapies have been developed in bid to protect the increasing rate of CF spread in the world. One of the therapies is respiratory therapy, which is a treatment that reduces lung damage as well as improves breathing. The aim of this therapy is reducing infection and removing mucus to maintain health in lungs. To heal respiratory infections, medicines may also be used. Some of the most common medicines that may be used are bronchodilators, DNase, Mucolytics like acetylcysteine and hypertonic saline (WebMD, 2013).
Background information
Is cystic fibrosis such serious as the information above dictates and what may prove its seriousness in the global society?
It is amazing how the disease has become famous among people to a point of news centers coming up with discussions on the spread of the disease in the world. They have come up with reliable information on how the disease has infected the world. They have also defined why the disease has been in a rise in some parts of the world.
On its News heath program, BBC has carried out a research that puts it clear that approximately 3-10% of CF patients in Europe and the united states are infected to a point that they cannot be treated the diseases (BBC, 2013).
They also found out that there are approximately 9000 cystic fibrosis patients in the United Kingdom where approximately one in a group of 25 carries the faulty gene, which leads to the condition (BBC, 2013).
The increasing rate of spread of the disease among whites and the massive number of children lives that it continues to claim, they have been involved in extensive research on the disease. Cystic fibrosis has been found not to only be spread through genes but it can be transferred from one person to another even without blood relation (BBC, 2013).This will mainly happen when a deep connection is developed between an uninfected individual and a person who has an extremely serious infection.
References
Accurso, F. J., & Sontag, M. K. (2008). Gene Modifiers In Cystic Fibrosis. Journal of Clinical Investigation, 118(3), 839-841.
BBC. (2013, March 31). Cystic fibrosis bug 'can spread between patients'. BBC News. Retrieved February 3, 2014, from http://www.bbc.co.uk/news/health-21965088
Ball, E. (2007). The genetic strand: exploring a family history through DNA. New York: Simon & Schuster.
Fundukian, L. J. (2010). The Gale encyclopedia of genetic disorders (3rd ed.). Farmington Hills, MI: Gale.
Férec, C., & Lehn, P. (2009). Foreword.Journal of Cystic Fibrosis, 8(2), 5.
Giddings, S. (2009). Cystic fibrosis. New York: Chelsea House.
Rosaler, M. (2010). Cystic fibrosis. New York: Rosen Pub. Group.
WebMD. (2013, December 30). Cystic Fibrosis-Treatment Overview. WebMD. Retrieved February 3, 2014, from http://www.webmd.com/children/tc/cystic-fibrosis-treatment-overview
