History of Cystic Fibrosis

In this blog post, I am going to discuss the history behind CF.  As you all know from your history and science classes, medicine used to be a lacking field in the early 20th century.  Many people did not understand certain diseases and sicknesses, with cystic fibrosis included in this as well. 

Reports of the symptoms of CF go back to 1857, with the first documentation of a sickness that would soon be called cystic fibrosis.  In this documentation, it described that "children with salty brows would soon die." The people of this time period knew that this sickness was deadly, but they had no idea what it was or how to treat it.

In 1938, Dr. Dorothy Anderson finally gave a clear understanding of what CF was and the symptoms that came with CF.  She made this revelation while performing autopsies on babies in a New York hospital. In 1953, Paul Agnese built on this understanding and documented the increased salt concentration in the bodies of CF patients.

In 1964, a research foundation was set up for Cystic Fibrosis.  This was done in hopes to help figure out what caused this disease.  In 1985, this event happened. The chromosome that causes CF was identified. 

However, there has not been much more learned about CF since that discovery. Today's technology helps babies and adults live with CF, but the research is ongoing to possibly find a cure. 

Dr. Dorothy Anderson

Resources:
http://cysticfibrosis.org.uk/about-cf/what-is-cystic-fibrosis/history-of-cf
http://www.nlm.nih.gov/changingthefaceofmedicine/physicians/biography_8.html

Living with CF

Living with cystic fibrosis may seem like a very difficult task, but many learn how to manage this disease in order to live fulfilling lives.  It is important that people who have CF know how to manage this disease, since it does affect various body systems. 


People who suffer from CF must intake a very high nutrient diet. This diet should include high protein, high calorie, and high fat. These diets are recommended to ensure that the body is receiving more than enough nutrients, since some of those nutrients will not be received due to mucus buildup. 
These extra calories also help provide energy for task of breathing, which can be quite difficult for those who have CF.  Vitamins and supplements are also included in these diets for additional nutrients that may not be received in the food, such as pancreatic enzyme supplements.


CF patients are also told that they should not smoke and not be exposed to those who do smoke.  Smoking (first hand or second hand) has the potential to damage their airways even more, making breathing even more difficult.  CF patients are also encouraged to exercise.  Doctors who treat CF provide exercise alternatives to help their patients remain safe but also help them build up their lungs. 


Resources:
http://www.cff.org/LivingWithCF/StayingHealthy/

http://store.ourhealthcoop.com/Pancreatic-Enzymes-p/pev.htm

http://en.wikipedia.org/wiki/Smoking_ban

How CF affects Multiple Organ Systems

Normally, in a person without cystic fibrosis,  all organ systems work together to help carry out important processes within the body. However, in a CF patient, the organ systems are damaged by the excessive mucus buildup.  The most common systems that CF affects is the respiratory, digestive, and reproductive systems.

The respiratory system is responsible for bringing oxygen into the body and expelling carbon dioxide out of the body.  It is responsible for bringing in an essential nutrient and getting rid of a harmful waste product, so the correct functioning of this system is extremely important.  For CF patients, this system is affected severely.  One way that CF affects the respiratory system is by bronchiectasis.  Bronchiectasis occurs when airways are damaged due to the large amount of mucus present.  This makes breathing difficult for the CF patient.  CF can also lead to chronic lung infections, because mucus is a breeding ground for bacteria. 

Another system that is affected by CF is the digestive system.  In a normal human body, the digestive system helps break down food, absorb water and nutrients, and get rid of waste.  When CF is present, several problems can occur in the digestive system.  One problem is nutritional deficiencies.  Mucus block the tubes which digestive enzymes move through from the pancreas to the intestines.  This leads to inefficient absorbance of nutrients needed by the body.  Mucus can also block the bile ducts, resulting in liver problems and gallstones.  Rectal prolapse is also common is CF patients.  Rectal prolapse occurs when internal rectal tissue comes out of the anus, due to frequent coughing. 

The reproductive system also has some serious effects due to CF, especially infertility.  Mucus can block the vas deferens, which connects the testes and the prostate.  This results in the process of making sperm to be destroyed.  Most men with CF are infertile, but women can conceive and have children. 

Resources:  http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/complications/con-20013731

Treatment Options for Cystic Fibrosis

Although living with cystic fibrosis seems difficult and overwhelming, there are several treatment options that are available.  In this blog post, I will be focusing in on some of the treatment options and how they work.

One of the devices used to treat CF is called a chest clapper.  A chest clapper is a handheld device that mimics the effect of cupped hands that are over the chest.  It is used to loosen mucus in the airways.  It literally claps on the person's chest.

http://openi.nlm.nih.gov/detailedresult.php?img=3094358_1745-9974-7-2-1&req=4



 Another treatment option available to CF patients is an inflatable chest.  This is a device that is worn around the chest that vibrates at high frequencies.  Like the chest clapper, it also tries to loosen mucus from the airways.

http://sunsci.wikispaces.com/Cystic+Fibrosis

Lastly, mucus-thinning drugs can be used to help treat CF.  These drugs help thin the mucus in the airways so it can be coughed up.  All of these treatment options are usually used together to provide the best possibilities of treating cystic fibrosis.

Here is the website for Pulmozyme, which is a drug that is commonly used to treat CF. It has an interactive video that shows how it works.
 http://www.pulmozyme.com/how-pz-works.html

Resources used: 
http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/treatment/con-20013731

How the pathophysiology is accquired

Cystic fibrosis is a genetic disease.  This means that the basis for developing CF is inherited from parents. As stated in earlier posts, a defect in the CFTR gene is what causes the development of CF.  Remember that the CFTR gene codes for the protein that controls ion, salt, and water movement out of the body's cells.

Each child receives two CFTR genes, one from each parent.  If the child receives only one faulty CFTR gene, they are considered a carrier. Carriers usually do not have any symptoms of CF, but they have the risk of passing it on to their children one day.  If the child inherits two faulty CFTR genes, the child will have cystic fibrosis.  This is called an autosomal recessive disease.  For the person to develop the disease, both copies of the defective gene must be present. 

This picture shows how the genes can be passed on from the parents.  There is a 25% chance (1 out of 4) that the child can inherit two normal genes or two faulty genes, and there is a 50% chance (2 out of 4) that can inherit one faulty and one normal gene.

Resources:
http://hihg.med.miami.edu/code/http/modules/education/Design/Print.asp?CourseNum=1&LessonNum=3
http://www.nhlbi.nih.gov/health/health-topics/topics/cf/causes.html

Symptoms, Prognosis, & Treatment Options

Cystic fibrosis has symptoms that are related to effects of the disease.  One of the symptoms is salty-tasting skin, consistent with increased salt concentrations within the body.  Other symptoms include chronic coughing with phlegm and lung infections.  This is because of the mucus buildup within the lungs.  Mucus buildup will also cause wheezing, difficult breathing, and greasy stools.  People suffering from CF will also have slow weight gain, since enzymes in the pancreas are affected by this mucus buildup.


The outlook for those suffering from CF has changed drastically over the past 100 years.  Over a century ago, many people with CF did not live past childhood.  Today, more than 45 percent of those with CF are 18 years or older.  This is because treatment options are improving with advanced technology and awareness.  There is now a positive outlook for cystic fibrosis patients.

There are various treatment options for Cystic Fibrosis.  Usually, treatment must occur each day since this disease affects many different parts of the body.  One treatment that is done is called airway clearance.  This helps to get rid of the mucus buildup in the lungs.  A vest that vibrates the chest is used to help break up the thick mucus.  Another form of treatment is inhaler medications.  This can also help break up mucus and prevent lung infections.  Lastly, pancreatic enzyme supplements can be taken. This helps replace the non-functional enzymes in the pancreas to help absorb those nutrients needed by the body.  To also increase nutrient intake, many people who have CF will take multi-vitamins.

Resources:
http://www.cff.org/treatments/
http://www.cff.org/AboutCF/Faqs/

http://marcellarn.tumblr.com/post/22329105599/note-those-with-cystic-fibrosis-have-skin-that

Cystic fibrosis (CF) is caused by a defective gene and its protein product.  The gene is called CFTR, and it is on chromosome 7. CFTR stands for cystic fibrosis transmembrane regulator.   Normally, this gene makes a protein that is responsible for controlling water and salt movement in and out of cells. This protein sits on the membrane to regulate control.  It lets ions, such as chloride, through the cellular membrane by acting as a channel. 






The gene becomes defective when a mutation occurs. The mutation happens when three out of the 6100 letters are missing. This mutation is called delta-F508, since three letters are missing, the correct amino acid cannot be placed at the 508 position. Phenylalanine should be placed at the 508 position, but it will not occur, resulting in the gene being defective.  This can result in an abnormal CFTR protein or not one at all.  If a CFTR protein is made, usually the cell will destroy it because it recognizes it as abnormal. 






An abnormal CFTR or missing CFTR results in saltier sweat because chloride ions are not regulated. The chloride ions cannot pass through because the CFTR protein will not open.  If there is no protein, chloride ions will not be controlled.  This occurs mostly in sweat glands, altering concentration of ions, which affects other systems in the body.











http://www.linkstudio.info/portfolio/illustration05.htm (picture)


http://www.ygyh.org/cf/cause.htm- this website gives a great animation to explain how CF occurs!


















Sources:
http://www.ygyh.org/cf/cause.htm


http://www.cff.org/AboutCF/


http://www.childlifesociety.org/what_causes_cf.php