Cystic Fibrosis By Patrick Volpe

What is Cystic Fibrosis : Cystic Fibrosis is a disorder caused by a gene which is mutated. It is generally the CFTR gene which stands for Cystic Fibrosis transmembrane conductance regulator gene. This disorder is only caused through inheritance from a parent or from both. "It causes that mucus in a persons body to build in the mucus glands. These glands normally produce a thin, lubricating liquid (mucus). If the person has cystic fibrosis the glands produce thick, sticky mucus which clogs the lungs and disturbs the pancreas of that persons body" according to the CF foundation.

This disorder is mostly common in Caucasian, European parts of the world affecting 1 person per 2000 live births. This is because the genetics and ethnicity of the person can decide on whether they are diagnosed with CF or not.

Symptoms : some of the symptoms for Cystic Fibrosis include : abdomen pain, coughing up blood, Diarrhoeia, heart burn and whole body problems like not being able to exercise.

Having clubbed fingers is also a symptom of Cystic Fibrosis as well as having a very high salt concentration in your body. Having Clubbed fingers means that the tips of your fingers have a rounded top like a little hill sitting on the tip of your finger. With a normal finger the gap between the nail and first bone is an incave instead of a concave nail.

Cystic Fibrosis was not recognised as an actual seperate disease until about 1938. It has been discovered to be most common in very young children and infants. People who are sadly diagnosed with CF are diagnosed at about age 2-3. CF also causes the persons sweat glands to produce sweat which has a very high concentration of salt. This is because the water content is brought to the surface of the skin and can not be absorbed again leaving the skin salty.

To have CF you must inherit one gene from each parent which means that the parent is a carrier of CF. If two people who are carriers of CF have children "there's a 25% chance of their children having cystic fibrosis". However if only one parent has the gene "their children have a 50% chance of being diagnosed with Cystic Fibrosis". Because of this Cystic Fibrosis is a recessive disorder.

A cYstic Fibrosis DNA double Helix!

Cystic Fibrosis is caused by a mutation of a gene. These mutations can occur in "over 1700 different ways". The mutation occurs in the CFTR gene which produces a range of proteins. A range of different mutations are being found every day in our world. Some of the newly discovered mutations are : Mutations of unknown significance and mutations with vary in clinical consequences.

Children with Cystic Fibrosis are diagnosed at age 2 or 3 so they can begin treatment.

The Cystic Fibrosis Foundation discovered the "mutated gene in 1989 on chromosome pair 7". However even earlier than that Dr. Dorothy Hansine Anderson discovered the actual disease in 1949.

An example of a Cystic Fibrosis Pedigree Chart showing how CF is inherited by family members

Most young children whom have sadly been diagnosed with Cystic Fibrosis live a healthy life until adulthood. The persons functionality of their lungs gets worse and worse up until the point where the person is classified as a disabled person. Through examining the rate over the years it is said that a person with CF will only live up to the age of 37 years old.

Tests for Cystic Fibrosis include : genetic testing, sweat testing, chest x-Ray's, lung functionality tests and pancreas functionality tests. Sweat testing involves a persons sweat being analysed for the salt concentration in the sweat and is the most commonly used test for diagnosis.

This young boy is using a special pump, vest and tube to help him to breath due to the amount of mucus build up in his lungs.

Treatments for Cystic Fibrosis - if a person with CF is diagnosed at a young age treatment can begin early even though it won't save their life. "Cystic Fibrosis health clinics generally offer the best help and support for a person with this disorder".

Treatments can vary from different things like........

  • Airway clearance - involves breathing through a special device which allows more air to enter a persons lungs improving breathing standards.
  • Medicines - "generally an inhaled liquid in the form of a gas, mist or aerosol" which opens up the airways or make the mucus in the persons lungs thin which helps the person to breathe easier.
  • Manual chest percussion - "where a person claps the chest and back of a person with CF in order to make the mucus thin and improve breathing".
  • Flu vaccines and Exercise/physical activity are also ways a person can treat Cystic Fibrosis.

Bibliography :

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WebMD. (2017). How Cystic Fibrosis Affects the Sweat Glands. Retrieved from How Cystic Fibrosis Affects the Sweat Glands

Wikipedia. (2017). Chromosome 7. Retrieved from

Wolfgang, K. (2006). Inhalation solutions. Cystic Fibrosis. Retrieved from

Created By
Patrick Volpe

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