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Caitlin Cystic Fibrosis

Page history last edited by CaitlinM 7 years, 5 months ago
Cystic Fibrois -Caitlin Madden

What are some contraversies surrounding Cystic Fibrosis?

 1. Lung transplants in children with CF:

Some people believe that lung transplants for children have no benefit and are a risky and dangerous operation, they also believe that the transplant will do more harm than good. Others think that it is a good option for children with Cystic Fibrosis and that it will greatly benefit them in making their disease more bearable. 


2. In the past some people thought that CF was a preventable disease and that it could be cured, while many others believed that it was hereditary and could not be cured or prevented. They were later proved to be right. A group of scientists in 1997 did tests on mice and reported that they had cured mice that had a mutated gene similar to the ones in humans with Cystic Fibrosis. Later it was proven that they didn't actually replace the gene, but temporarily added a working version of the gene to mouse fetuses. The sientists then concuded that CF is a birth defect and that it is not preventable.


What is a genetic disorder?

A genetic disorder is a disease that is inherited genetically. This is caused by an abnormality or mutation in a person's DNA, which disables them from preforming some life functions. When a person has a dominant disoder it means that they only have one copy of the mutated gene. If the person has a recessive disorder then that means that they have two copies of the mutated gene.


How are genetic disorders inherited?

Genetic disorders can be passed down in three different ways:

1. Dominant:

  • Usually only one parent is affected 
  • One copy of the mutated gene 
  • Children with one parent affected have a 50% chance of being affected 


2. Recessive:

  • Both parents are un-affected but are carriers 
  • Two copies of the mutated gene 
  • Children of carriers have a 25% chance of being affected 


3. X-linked:

  • Mother carries a defective X gene
  • Women are protected from this disorder because they have another normal X gene 
  • Men are not protected since they carry only one copy of the X chromasome and a Y chromasome 
  • Males who are born to a mother with one mutated X gene has a 50% chance of being affected 



What is Cystic Fibrosis? Cystic Fibrosis is the most common fatal disease in the United States that affects approximately one out of 3,300 births. Cystic Fibrosis is a hereditary disease that affects the lungs, pancreas, liver, and intestines. It is an abnormal transport of chloride and sodium, and is caused by a mutation or abnormality in a person's DNA which causes their body to produce a thick liquid called mucus. The mucus build up in the lungs and pancreas which can lead to lung infections and digestive problems.



How is Cystic Fibrosis inherited?


Cystic Fibrosis is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CTFR) Cystic Fibrosis occurs in a human when they inherit 2 abnormal genes for CF from their parents. Many people carry one CF gene and are not affected and do not show any symptoms.


The history of Cystic Fibrosis: Cystic Fibrosis was first described as a disease in the 1930's and was usually only recognized after the child's death which was mostly from malnutrition or pneumonia. This disease was commonly misdiagnosed as whooping cough, chronic bronchitis or pneumonia. The name Cystic Fibrosis was given to the disease by Dr. Dorothy Andersen and refers to scarring (fibrosis) and cyst formation. The standart test for diagnosing CF was created in the 1950's from discoveries made by Dr. Paul di Sant'Agnese in New York during the heat wave.


How are humans affected? A humans lungs. pancreas, liver, and intestines are affected by Cystic Fibrosis. The body produces a sticky and thick liqued known as mucus which builds up and clogs the lungs and pancreas. Cystic Fibrosis can cause fatal lung infections and serious digestion problems. Also, sweat becomes very salty causing the body to lose large amounts of salt which can disrupt the balance of minerals in the blood.



Symptoms of Cystic Fibrosis: 

  • Difficulty breathing and respiratory tract problems
  • Chronic lung infections 
  • Inability to grow or gain weight normally 
  • Extreme difficulty digesting food 

Symptoms in newborns: 

  • Delayed growth 
  • Failure to gain weight normally during childhood 
  • Salty-tasting skin  


Treatments for Cystic Fibrosis:

  1. General treatments:

  • Mucolytics: loosens mucus so that it can be coughed up easily 
  • Bronchodilators: expands and clears airways 
  • Steroids: decreases inflammation in lungs 
  • Antibiotics: fights lung infections  
  1. Lung treatments: 

  •   Antibiotics to help and prevent sinus infections 
  • Inhaled mediceines to open airways 
  • DNA enzymee therapy to help thin mucus and make it easier to get rid of or cough up
  • Hypertonic Saline (high concentrated salt solutions)
  • Lung transplants can also be an option for serious cases 
  • Flu vaccine yearly
  • Oxygen therapy 
  • Aerobic excercise to help thin mucus 


Side effects for treatments:  

  1. Salt therapy side effects: 
  • Skin irritation 
  • Conjunctivitis may also occur 

     2.  Side effects for Bronchodilators: 

  • Anxiety 
  • Muscle tremors 
  • Increased heart rate 
  • Headache and dizziness
  • Nausea, vomiting and diarrhea  

What is gene therapy? 

Gene therapy is a technique that is used to help prevent or cure a genetic disorder or disease, where normal genes are transplanted into cells to replace mutated or defective gene.


How is gene therapy used in Cystic Fibrosis?

There are two forms of gene therapy used in CF:

1. Germ line therapy:

Germ line therapy helps correct and treat the defective gene, not only in the specific person but also their children and future generations.

2. Somatic gene therapy:

*Somatic: relating or affecting the body*

Only treats the gene in said person, and does not affect further generations.



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"What Is Gene Therapy?" - Genetics Home Reference. N.p., n.d. Web. 10 Mar. 2013. http://ghr.nlm.nih.gov/handbook/therapy/genetherapy.




#1: http://www.hhmi.org/genetictrail/e100.html 

#2: http://www.hhmi.org/genetictrail/e110.html 

#3: http://www.hhmi.org/genetictrail/e120.html

#4: http://thehealthanddiseaseblog.blogspot.ca/2013/02/Cystic-Fibrosis-Genetics-Pathogenesis-Epidemiology-Signs-and-Symptoms-Complications-Investigations-Treatment-Prognosis-of-Cystic-Fibrosis.html

#5: http://www.daviddarling.info/encyclopedia/C/cystic_fibrosis.html 

#6: http://www.drugs.com/cg/cystic-fibrosis-in-children.html


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