Concept Disease of Cystic Fibrosis

Statistics show that in the UK, 8000 people are affected by Cystic Fibrosis. In the US, 1 in every 31 people is a carrier of the gene and with symptoms. In African countries, one in every 20, 000 people has it. It is the most common hereditary disease among Caucasians that causes death. Consequently, it is of importance to raise awareness of the disease so that policymakers can come up with appropriate measures of containing it (Curators of the University of Missouri & RCEP7, 2001). This paper seeks to outline the characteristics of the disorder, how it affects the human organs, its treatment, and the new inventions in curbing it.

Cystic fibrosis is a disorder that is passed down from one family member to the other and affects the exocrine system so that there is a malfunction in the production of mucus and sweat in the body. What exactly happens is that when mucus is secreted it accumulates in the lungs and the intestines so this causes complications in the respiratory system. The patient hence becomes emaciated and suffers from malnutrition as a result of indirect starvation (Mason, 2005).

Early symptoms of the disease include viscous mucus produced in large amounts in the lungs, frequent respiratory diseases due to moist conditions that facilitate harboring of microorganisms. Pneumonia also attacks as a, result, this happens often. The patient gets endless coughs that may occasionally spot some blood. Some opportunistic respiratory diseases like asthma, bronchitis, and the chronic sinusitis are part of the indication of the onset of cystic fibrosis. The person produces wheezing sounds while breathing. A person gets growths in their nostrils. Newborns cannot pass stool. They also lose weight and do not grow as well as their peers; their stomachs swell due to intestinal mucus. They experience abdominal pains also as a result and have to deal with cases of flatulence, which can be very uncomfortable. There is swelling at the fingertips and toes (clubbing). The person gets tired easily due to malnutrition and cannot perform heavy tasks. They eat normally but do not gain weight as much so they have a deficiency in energy. The stool is pale in color and sputum changes color and increases in amount (‘’, n.d).

Explanation of effects on organs

Respiratory system

Patients experiencing this disorder follow different patterns in exhibiting symptoms. However, they all stem from the same problems. In the respiratory system, many theories have been put across to explain the condition. Some scientists say that at birth, babies with CF have normal lungs and that the presence of the gene with the disorder causes a pulmonary infection in the presence of the minor pathogens that are present at the time. Some experts argue that the respiratory tract of the baby is swollen when the baby is born a condition that causes the infection to develop. Other experts support the view that normal CFTR can be able to fight pathogens in the tracts but the defective ones not leadch leads to the infection. The other theory is that during the breathing process bacteria that get in getting enclosed in the lungs and due to the moist conditions they consequently grow and multiply hence infection.

All the hypotheses put forward have had conflictevidencences and so to mark the bottom line the information that holds is that at birth the infant with CF has inflammations like other infants with normal respiratory diseases. What happens is that the inflammations and the symptoms are more exaggerated due to the presence of the disorder and the pathogens in the airways (Mason, 2005, p.201)

Gastrointestinal system

People with CF have a problem when it comes to producing pancreatic juices. What happens is that due to the thick layer of mucus, the enzymes do not get the food and so the food is not digested well the much-needed nutrients are not extracted fully to benefit the body. The stool passed out as a result is huge and well lubricated with thick mucus and with bad odor. This is what causes abdominal pains in the patient.

The other function of the pancreas is to produce insulin for the braking down of sugars. When it cannot perform this due to blockage, the patients develop Cystic Fibrosis-Related Diabetes. A liver failure can happen as a consequence of blockage of the ducts that transport bile.

Reproductive system

CF causes infertility in it patients both male and female. In males what happens is that the disease attacks the vas deferens thus making it to develop poorly. Men become almost impotent though they can be productive with assistance. In females, accumulation of mucus in the cervix hinders conception. Malnutrition could also be a factor since it could affect ovulation. Amenorrhea may develop in later stages of the disease. In both cases, there is delayed puberty.

Sweat Gland system

A person with CF sweats a lot and loses so much salt as a result. Doctors check for this symptom when diagnosing. With time this can cause irregularity in the internal environment, this will in turn lead to irregularities in the mechanisms of the heart system.

CF weakens the bones of an individual and renders their joints even weaker. The patients also suffer from nutritional deficiency this is due to malfunctioned absorptive properties of the villi because of thick mucus. Fewer calories are being absorbed than are being used up. Secondly, a lack of appetite brought about by the frequent respiratory infections. Final reason is the increased use of energy in the lungs which causes a strain on the little nutrients that the body absorbs. Since the ducts are clogged more energy is required for the same amount of air that one would normally breathe when not suffering from CF (Mason, 2005, p.202.).

Current Surgical and medical treatment

Gene therapy: this involves repairing the defective genes at an early age or replacing them. An alternative to this procedure is administering the active formula of the missing protein component.

For the lung difficulties, the patients are advised to exercise to reduce the amount of mucus clogging the lungs. They are also given medication to assist in this coupled with therapy sessions. In chest therapy, the CF patient is put in a posture that allows the mucus to drain out. A guardian or any adult does this procedure for a child. For the adult, after doing it several times with the doctor, they can do it by themselves.

Oxygen therapy: this is for patients with extreme difficulties in breathing. They need to monitor the oxygen levels of every place they stay especially places with limited oxygen like pressurized cabins.

The third measure is a heart transplant, this is sought when a patient is at the last stage of lung disease or any with CF. Studies show that adults survive better after the surgery than children do though with improvement in technology, the figures are changing positively (Mason, 2005, p.205).

An increased intake of energy foods by 50% is encouraged to cater to the increased body functional processes. A high fat intake is also encouraged for the same reasons. Patients with CF are given nutritional supplements to provide extra energy for body processes. Examples include vitamins A, D, E, K. They are also encouraged to eat more.

In the past, the life expectancy was at 20 years but with improvements in technology the life expectancy has doubled and 50 years for those with minor complications in the pancreas according to Mason (2005, p.201.).

In recent, past drug-based innovations have been developed and investigated and solutions have come up in the form of supplements. Prenatal diagnosis is also done to determine the carriers of the gene. This keeps the parents prepared. People that are born with pancreatic dysfunctions are treated by introducing enzymes to help in digestion that might initially have been missing.

Generally, CF is a genetic disorder that is passed down and causes malfunctioning in body processes such as the respiratory, the digestive system. It also affects bones and joints not forgetting the sweat glands. It could also cause infertility in women and men though they can still reproduce with medical help.

Treatment of the condition by gene, chest, and oxygen therapy makes living with CF almost bearable. Supplements need to be taken to provide the necessary nutrients together with energy-giving foods and some fat in small quantities. Lung transplant is also an option for those with developed cases of lung disease and CF. Life expectancy has been known to rise due to discoveries in treatment.

CF does not have to be a death warrant for anyone; patients with the disease have been known to live fulfilling lives with husbands and children because of a positive mentality. In addition to that, proper care also plays an integral role in the longevity of the patient.


Curators of the University of Missouri & RCEP7 (2001). Handbook of disabilities Cystic Fibrosis,1-6. Web.

Cystic Fibrosis (n.d.). System Fibrosis Treatments. 2010. Web.

Mason, P. (2005). Cystic Fibrosis- the disease. Hospital Pharmacist, 12,201-207. Web.

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