Cystic Fibrosis project


Hello everyone, my name is Soran and I will
be doing my presentation on cystic fibrosis Let’s begin with the terminology. the term
is pronounced as (SIS- tik- fi-bro-sis) Looking at the chart for word parts and meanings,
cyst means sac; -ic means pertaining to Fibr means fiber and -Osis means condition Our textbook defines cystic fibrosis as scaring
(fibrosis) and formation of cyst in the pancreas. We can
see sites of fibrosis in the shown picture. Now, let’s learn more about Cystic Fibrosis! What is Cystic fibrosis? Cystic Fibrosis is an inherited life threatening
disorder which causes severe damage to the lungs and the digestive system. What are the causes of cystic fibrosis? Cystic fibrosis or CF is caused by a mutation
in a gene called the “Cystic fibrosis transmembrane conductance regulator” CFTR for short. this gene is found on chromosome
7 and as we can see from the picture shown, in patients with CF, the nucleotides C,T,T
in the 2nd & 3rd codon that translate to amino acids Isoleucine 507 & Phenylalanine
508 are deleted. Function of CFTR : this gene codes for proteins that go to surface
of the cells that line the pancreatic duct, airways, GI tract, Biliary
duct, parts of male reproductive tracts and cells that are part of sweat glands. This gene creates a channel that allows ions
like chloride and bicarbonate to move from one side of the cell membrane to the other. The movements
of ions change the concentration of the molecules within the ducts that the cells are lining
and this change results in: pancreatic fluid secretion, moisten the airway
lining, movement of digestive juices, and sweating on the skin. So what happens when CFTR is dysfunctional
by mutation? A normal functioning CFTR channel moves chloride
ions to the outside of cell while a mutant CFTR channel doesn’t, causing a
sticky mucus to build up on the outside of the cell. How is this gene passed on? CFTR is a recessive gene and a child needs
to inherit one copy of the gene from each parent in order to have cystic fibrosis. Let’s take a look at the symptoms: CF affects the entire body, however it mainly
targets the respiratory system and the digestive system in patients with CF, the built up thick mucus
clogs the tubes carrying air some respiratory symptoms include: persistent cough with thick sputum, wheezing,
shortness of breath, repeated lung infections, and nose congestion. Cystic fibrosis also clogs the tubes that
carry digestive enzymes from pancreas to the small intestine and its symptoms are: very poor digestion, poor weight gain & growth,
severe & painful constipation. in new borns there is also intestinal blockage
called meconium ileus. How is Cystic Fibrosis Diagnosed? early diagnosis of CF is followed by immediate
treatment plan The most common diagnosis procedure is performing
a sweat test on a newborn. a sweat producing chemical is applied on an
area of the skin and an electrode is connected , baby sweats and the sample is
collected, then lab checks for the amount of chloride in the sweat. babies with
CF have more chloride (salt) in their sweat. This picture shows the simple process of testing
for CF Genetic testing is also available to determine
the carrier for CF or it is used to confirm this disorder. Are there any treatments for CF? sadly there is no cure for cystic fibrosis
but it is medically manageable. treatment plans can reduce the disease complications
and ease the symptoms antibiotics are used to prevent lung infections:
like Ciproflocxacin, Azithromycin, or Gentamicin by injection There is also mucus thinning drugs available
which help with coughing up mucus Bronchodilators that relax muscles around
the bronchial tube, helping airways to be open & Oral pancreatic enzymes that help with nutrient
absorption Lastly, the specialists who work in treating
patients with Cystic Fibrosis are: Pulmonologists, Gastroenterelogists, Nutritionists,
Pediatricians, and Medical Geneticists. Thank you for viewing my presentation and
Good luck on the Finals!

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