Understanding Cystic Fibrosis causes, symptoms and the disease

Understanding Cystic Fibrosis causes, symptoms and the disease

Cystic Fibrosis is a chronic and deadly disease that is known to affect a large number of people in Australia. The disease is scientifically categorized to be genetic, and it is passed and/or inherited from one parent of one generation to another. The disorder has the capacity to affect people of all races, however, it is common among Caucasians.

Cystic Fibrosis is known to affect the digestive as well as respiratory systems. Despite the major advancements in treatment options over the last few decades in Australia, the disease is still lethal before the patient reaches thirty years. The respiratory system is the one that is affected the most. Cystic fibrosis patients usually have difficulties in breathing, and they are vulnerable to different lung infections.

Australians with this disorder have multiple problems with their sweat glands apart from issues with their digestive and respiratory systems. In males, the disease has the capacity to affect the reproductive system. The disorder causes fibrosis whereby the tissue located in the pancreas comes to be scarred and damaged. The healthy tissue ends up being replaced by cysts or small holes that are filled with fluids. The body produces sticky and thick mucus in the digestive system and the lungs.

The importance of mucus

In order to understand the effects of the disease, one needs to learn more about mucus. Under normal conditions, mucus glands are known to lubricate and maintain the body organs’ moisture. In this context, healthy people who are free of cystic fibrosis are unaware of all the mucus functions in their bodies. The crucial tasks of mucus include:

a) lubrication of breathing organs in order to ensure easy inhalation and exhalation;

b) supports the operation of the pancreatic gland;

c) ensures there is continuous smooth passage of sodium chloride into and out of the human epithelial cells.

These cells do normally line the respiratory as well as the gastrointestinal tracts along with pancreatic ducts. Nevertheless, cystic fibrosis gene prevents the functioning of the chloride ion channels in the patient’s body. This leads to excessive salt accumulation, where some of the salt is excreted through the sweat glands. Therefore, a cystic fibrosis patient usually has highly salty skin.

As far as cystic fibrosis is concerned, one can basically talk of cystic fibrosis-related diseases rather than different types of cystic fibrosis. The related diseases can be broken down into single organ manifestation of cystic fibrosis and conditions that are not cystic fibrosis but in which patients show a higher level of cystic fibrosis gene mutations.

With respect to the above categories, cystic fibrosis Australian patients suffer from abdominal pain and discomfort, along with diarrhea and constipation. The stated conditions above lead to serious malnutrition, resulting in tardy growth, slower development and chronic weight loss.

In peculiar cases, sinusitis is considered to be both an invariant feature of cystic fibrosis and a common finding in the Australian general population. Australians suffering from cystic fibrosis may also face cases of infertility, due to the absence of the vas deferens. The vas deferens is responsible for connecting the ejaculatory ducts of the man’s penis to the testicles. For a woman, infertility may result from malnutrition or thickened cervical mucus.

Symptoms of Cystic Fibrosis

Symptoms of cystic fibrosis depend on the severity of the disease, so the symptoms for individual patients will vary. In some patients the symptoms may be detected during infancy, while in others they may be discovered during adulthood or adolescence. Cystic fibrosis symptoms include the following. In the respiratory system the disorder leads to the build-up of thick, as well as sticky, mucus in the airways.

This allows bacteria to cause infections around the region, such as thick mucus, bloody mucus and persistent coughing. The condition also leads to pneumonia, recurring sinusitis and bronchitis bouts. Other symptoms in the respiratory system include: wheezing, inflammation of the nasal passage, recurring lung infections and breathing difficulty.

CF also affects the digestive system as the mucus blocks the pancreas vessels. This causes inflammation of the pancreas and leads to the lack of enough enzymes that are needed in food breakdown. Lack of enough enzymes may also lead to a foul-smelling stool, along with malnutrition. Other symptoms in the digestive system include: severe constipation, persistent diarrhea, blockage of the intestines, jaundice in children, and prolapse of the rectum, gallstones, diabetes, poor growth and liver infections due to blocked bile ducts.

Reproductive organs are also affected. Cystic fibrosis leads to sterility in men as well as women. Generally, some women can become pregnant but they may take a longer period before conceiving. Men with CF are born without a vas deferens tube which is an organ that carries sperms from the testes to the penis. While women with CF suffer from lack of menses and some get irregular menses especially if they are underweight. CF also affects both bones and joints which leads to the development of arthritis. CF Australian patients are also at a high risk of developing thin bones, lack of minerals and osteoporosis.

Causes of Cystic Fibrosis

The illness is a hereditary condition that is genetically inherited by a newborn from his or her parents. Carriers of the CF gene do not carry any symptoms but they pass the gene to their children. It is termed as a recessive disorder that affects both male and females.

In order to be detected with cystic fibrosis one has to inherit two CFTR genes. Children who inherit two damaged CF genes from both parents suffer from cystic fibrosis. While those who inherit one faulty and one normal CFTR gene are known as CF carriers. These type of patients live normal lives without cystic fibrosis symptoms but can pass the gene to their infant.

A significant percentage of Australians are carriers of the cystic fibrosis mutation. If two of the carriers, each of whom has a good format of the gene and a bad format of the gene, conceive a baby together, there is a high probability that the newborn will be a potential carrier of the defective gene. This has led to newborn screening in Australia. If two mutations are found, then the child is presumed to have cystic fibrosis. If one cystic fibrosis mutation is found, a second blood sample is taken between days twenty one and twenty eight for a further measurement of immune-reactive trypsin.


1. Cystic Fibrosis: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Cystic_fibrosis

2. Health Cystic Fibrosis: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

3. Genetics fact sheet: http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheet33

4. Cystic Fibrosis: http://www.babycenter.com.au/a557529/cystic-fibrosis#section3

5. Cystic Fibrosis: http://www.chronicillness.org.au/index.php/cystic-fibrosis

6. Conditions and disorders: http://www.kidspot.com.au/familyhealth/Conditions-&-Disorders-Congenital-disorders-Cystic-fibrosis+2431+203+article.htm