Cystic Fibrosis

Cystic fibrosis is a secretory disease (including sweat and mucus glands) that is usually inherited. Inherited implies that it is passed on through genes of a parent to their children. To inherit cystic fibrosis, a person gets two faulty genes- each from both parents. The parents usually do not suffer from the disorder themselves. Cystic fibrosis is a multi-system infection, meaning that its infection involves several body organs in the lungs and the digestive system. Cystic fibrosis usually affects the liver, sinuses, lungs, intestines, pancreas and the human reproductive organs (Institute Of Health Sciences, 2009). Mucus refers to the substance which is made as a result of lining of certain body tissues. Usually, mucus is watery and slippery. The purpose of mucus in the body is to keep the linings of some organs moist so as to protect them from becoming dry or getting infected. However, for a person suffering from cystic fibrosis, their mucus usually becomes sticky and thick. This mucus eventually piles up in the lungs, blocking the airways. The building up of the mucus provides a suitable atmosphere for the growth of bacteria. This causes severe and serious infections which might completely damage the lungs (Medicine net, 2009).

Etiology
If ones lungs are healthy, there is normally a constant stream of mucus flowing across the surfaces of lungs and the air passages. The mucus serves to remove bacteria and debris. If one is suffering from cystic fibrosis, the mucus becomes extremely sticky and thick because of an altered water and salt balance in the lungs. Cystic fibrosis is a condition caused by an inherited faulty gene termed as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic fibrosis results when an individual has a pair of the faulty gene inherited from both parents. However, if one has only one cystic fibrosis gene, he or she cannot suffer from the disease but becomes a carrier and will also not be affected by the symptoms of cystic fibrosis. The illustration below describes how cystic fibrosis is inherited (BuPa, 2009).

From the above illustration, when both parents are cystic fibrosis carriers for every pregnancy there is one chance in a total of four of getting a cystic positive child, two out of four chances of getting a cystic carrier child and one in all the four chances of getting a cystic negative child -neither a carrier nor a victim of the disease (BuPa, 2009).
The most common physiological problems caused by Cystic Fibrosis
Since the disease is a multi-system infection, it results to quite a number of physiological problems which include CFTR Gene mutation, Chloridesodium channels, pancreatic problems, infertility, and enzyme. These problems are as discussed below.

CFTR gene mutation
Basically, gene mutation is an irreversible change in DNA sequence which makes up such a gene. Gene mutation occur through two different ways either through inheritance or can be acquired in the course of a persons lifetime. The CFTR gene mutation is an example of the inherited gene mutation case- it is a hereditary mutation (also referred to as germline mutation). There are over one thousand genetic mutations that are associated with varying degrees of the severity of cystic fibrosis disease. Majority among these mutations alter amino acids (the building blocks for proteins) in CFTR protein or else delete small amounts of DNA out of CFTR gene (Lurquin, Omoto, 2004). The most frequent mutation is called Delta F508 and results from the deletion of a single amino acid at 508 point in CFTR protein. This results to an abnormal channel in the CFTR protein. This abnormal channel eventually breaks down after a short while and as such, it cannot reach the cell membrane and transport the chloride ions. The disease forming mutations in CFTR gene changes the production, stability as well as structure of chloride ions. This causes the channel of chloride ions not to function properly thus affecting and destroying the transportation of chloride ions and the movement of water inside and outside the cells (Lurquin, Omoto, 2004).

Chloridesodium channels
Abnormalities of the functioning of the epithelial system in cystic fibrosis are linked to certain defects in the permeability of the cell membrane to sodium andor chloride ions. Recently, a certain class of chloride channels in the epithelial airways cells was reported to be lacking usual sensitivity for phosphorylation, through the camp dependent Kinase protein. This suggests that single genetic defaults in the chloride channels could be resulting to cystic fibrosis (Kakaz  Anthony, 2006).

Infertility
This condition affects the male and the female reproductive systems as a result of the faulty CFTR gene in the body. Mutations in CFTR gene disturb the functioning of chloride channel thus preventing natural flow of the chloride ions as well as water inside and outside the cells. As a result, the cells in male genital region generate mucus which is unusually sticky and thick. In men, this mucus then blocks the tubes carrying sperms from the vas deferens (testes) in a developing unborn male and the condition deteriorates before birth. With no vas deferens, sperms cannot be transferred from testes and part of the semen.  As a result, men having congenital bilateral lack of vas deferens cannot father children (are infertile) save for the use of modern reproductive technologies (Thomas  Schover, 2009). For women on the other hand, the condition results to the production of excessive mucus in the genital organs. This mucus builds up with time and eventually clogs the cervix. Once the cervix is blocked, it becomes impossible for the sperms to flow through the female virginal cannel to the oviduct where fertilization takes place. As a result, it becomes difficult for a woman to become pregnant until the condition is treated (Jacobs, 2007).

Pancreatic and Enzyme problems
The thick and sticky mucus clogs the ducts, tubes and the pancreases. Consequently, digestive enzymes which are responsible for production of the pancreas cannot be able to reach the small intestines. The digestive enzymes assist in the breaking down of food and without them the food is not properly broken down and consequently the small intestines cannot completely absorb proteins and fats. The end results are deficiency of vitamins in the body and malnutrition since the nutrients leave the body unused. In addition, it can result to intestinal gas, bulky stools, swollen bellies due to constipation or general discomfort and pain (Institute of Health Sciences, 2009).

Sinusitis, bronchietasis and pancreatitis
Sinuses refer to air filled gaps behind the nose, eyes and the forehead. They usually produce mucus and aides in keeping the lining of the nose moist. When the sinuses get swollen, they become clogged with mucus and are infected. The swelling of the sinuses has been reported to be as result of the faulty pair of gene present in cystic fibrosis infected people. Bronchietasis is a disease of the lungs whereby the bronchial tubes and the large airways in the lungs become enlarged, stretched out and flabby forming pockets (Davis, 1993). Mucus collects in these pockets causing infections in the lungs. Repeated infections in the lungs due to accumulating mucus create increasing damage to the bronchial tubes and eventually bronchietasis. If not treated, it can cause respiratory failure. The mucus that collects in the lung pockets comes from the excessive production of mucus in the body which is the necessary condition of cystic fibrosis. Pancreatitis refers to the painful inflammation in the pancreases. This painful inflammation of the pancreases is caused by a mal functioning pancreas (Davis, 1993).

Other problems which are related to cystic fibrosis include intestinal blockage episodes in newborns, nasal polyps (growth in the nose caused by the swelling of the sinuses) and clubbing (the widening and rounding of finger tips and toes). Clubbing develops because the lungs cannot function properly and hence they are not able to purify enough blood and consequently, oxygen in the blood stream is not sufficient. Cystic fibrosis also causes Pneumothorax, which is the collapsed lung, and Rectal Prolpse. Rectal prolapsed is frequent coughing and difficulties in passing stool. This condition causes the rectal tissue in the body to pop out from the rectum (Davis, 1993).

The symptoms of cystic fibrosis
The signs and symptoms usually vary over time and from one person to another. Some people will develop serious digestive and lung problems while others suffer from mild illness that does not show up till they become adolescents or even when they are adults. Sometimes, a person suffering from cystic fibrosis will show mild symptoms which begin to become more severe as the disease worsens (Lewis, 1993).
For instance, in most people, the functioning of the lungs begins to decline at early childhood and with time the lungs become permanently damaged resulting to serious problems in breathing. Consequently, breathing problems advance to respiratory failure which is the most common cause of deaths among people suffering from cystic fibrosis. If someone has cystic fibrosis, the enzymes that are produced by the pancreas do not reach the gut since the flow is clogged. Without the digestive enzymes, the patient cannot get enough nutrients especially fats and proteins. Such a person shows the signs of malnutrition and gross loss of weight even when they are observing proper and hygienic feeding manners. Again, the stool of such people contains excess fats which make it to appear oily, sticky and hard to flush away. The basic symptoms of the disease are as a result of thick and sticky mucus. The most frequent signs and symptoms of cystic fibrosis include frequent coughing which causes thick sputum and phlem as well as frequent bouts of the bronchitis that can lead to inflammation or permanent damage to the lungs (Lewis, 1993).

Cystic fibrosis causes salty tasting skin which is as a result of dehydration Dehydration is caused by the failure of the intestines to absorb enough water. Further, it causes unending diarrhea, infertility, huge appetite accompanied by poor growth and weight gain- this is referred to as failure to thrive.  A person suffering from cystic fibrosis should exhibit at least more than fifty percent of the symptoms mentioned above at the same time or on recurring and consecutive basis since other disorders might also result to several of the signs and symptoms mentioned above (Lewis, 1993).

The diagnosis of cystic fibrosis
To diagnose cystic fibrosis, the doctor first obtains a detailed family and medical history of the patient and then conducts a thorough objective examination. To confirm the diagnosis, the doctor also performs a number of laboratory tests, for the purposes of accuracy. The most accurate test for diagnosing cystic fibrosis is the sweat test. The sweat test is used to measure the level of salt in the sweat. To conduct this test, doctors usually rub some little amount of a testing chemical substance called Pilocarpine on the arm or the leg of the patient. Next, they attach an electrode on that spot. The electrode is used to provide an electric mild current which produces sweat (this could cause a feeling of intense warmth or tingling depending on the patient). After that, the doctors cover that area using a filter paper or gauze pad and wrap up with plastic. They leave the test to rest for thirty or forty minutes and then remove the plastic so that the sweat collected on the filter paper or gauze pad can be taken for analyzing. To provide accurate diagnosis, the test is usually done twice. High levels of salt in the body indicate the presence of cystic fibrosis (Jacobs, 2007).

However, there are also other tests which can be used to diagnose the disease. Such include blood tests to investigate the presence of the abnormal CFTR gene or any other blood test indicative of cystic fibrosis. Also a chest x ray which takes the picture of patients lungs to test whether there is scarring resulting from lung inflammation or a sinus x ray to test for the presence of sinusitis in the patient. Finally the sputum test is also used by doctors to test the bacteria growing in the sputum (Lewis, 1993).

Other tests used to diagnose cystic fibrosis are done for the pregnant women to test the fetus in the womb. For the pregnant women, the prenatal genetic testing will normally find out whether the developing baby is cystic fibrosis positive. Such tests include the Amniocentesis. For this test, the doctor will insert a hollow sterilized needle through the abdominal wall into the uterus and obtains cells from amniotic fluid. This fluid is then tested to find out if the pair CFTR genes of the fetus are normal. The final test done on the fetus is called the chorionic villus biopsy where the doctors use ultrasound that guides a thin tube via the virginal cannel and the cervix and into the uterus to remove small pieces of placenta for biopsy. The placental cells are then tested for cystic fibrosis (Andrews, 2001)

Treatments for the clogged mucus (lungs, sinuses, human reproductive organs)
Treatment for cystic fibrosis lung problems includes antibiotics for airways infections, physical therapy for the chest and exercises. Antibiotics are the principal treatment for cystic fibrosis serous cases. The choice of the antibiotics administered depends on seriousness of the condition, the level of bacterial strains involved and the patients history of antibiotic use. The antibiotics can be oral, inhaled or intravenous. For cystic fibrosis PCT (physical chest therapy), the back and chest are pounded repeatedly so as to dislodge mucus from the lungs and facilitate coughing up the accumulated mucus (Andrews, 2001). Cystic fibrosis CPT ought to be done three to four times on a daily basis. CPT is as well frequently called postural drainage. This is because it involves lying or sitting on ones stomach with the head down. This permits gravity to aid in draining mucus from the lungs. Since CPT is difficult and uncomfortable, a number of devices have been invented recently that are less tasking to operate. These devices include the electronic chest clapper (mechanical percussor), PEP (positive expiratory pressure) which creates vibrations for breaking mucus loose in the airways, and an inflatable therapy vest which utilizes high frequency waves of the air to force the mucus outside the lungs. PCT also uses the flutter device. This is a small device which is hand-held and it is used by breathing through it, an action which generates a wave of vibrations for dislodging mucus.  The final method for treating lung problems of cystic fibrosis involves aerobic exercises. Aerobic exercise helps in loosening the thick mucus, encouraging coughing to clear out the mucus and generally improving the physical condition (Andrews, 2001).

Treating the digestive system problems (the intestines, pancreases and live)
Nutritional therapy is important for improving growth and development as well as exercise, strength and tolerance. It may also make a cystic positive individual to become strong enough and develop immunity against the lung problems. This therapy involves high calorie diets and well balanced low fat- high protein content foods. Doctors usually recommend oral pancreatic enzymes for the facilitation of the digestion of proteins and fats and the absorption of adequate vitamins. The oral enzymes are administered as capsules which are taken before meals. Vitamin supplements of vitamins K, A, E and D are also prescribed by doctors to replace fat-soluble vitamins that the intestines are not able to absorb. Finally, the use of feeding tubes, the T- tubes that adds calories during the night is a probable treatment for cystic fibrosis. The tube is usually paced on ones stomach and a bottle containing nutritional solution is attached at the entrance of the T-tube (Davis, 1993).

Approximately thirty thousand people living in the United States of America have cystic fibrosis. Cystic fibrosis affects both the males and the females regardless of ethnic and racial backgrounds. However, the disease is more prevalent among the Caucasians and less common amongst the African Americans. Cystic fibrosis is one among the major inherited conditions among the Americans. Statistics show that one out of every three thousand babies conceived in the US, suffers from cystic fibrosis. Furthermore, approximately twelve million Americans are living carriers of the abnormal CFTR and ninety percent of them do not know that they have the faulty gene. Cystic fibrosis is therefore among the major threats to human beings and more attention to prevent and cure the condition is not only necessary but also urgent.

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