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Cystic
fibrosis
WHAT IS CYSTIC FIBROSIS?
Cystic fibrosis (CF) is a
genetic disorder. It is caused
by mutations in the CFTR
gene on Chromosome 7,
which is responsible for
producing a protein that
regulates the movement of
salt and water in and out of
cells.
THIS DISEASE IS AN AUTOSOMAL RECESSIVE DISORDER.
Cystic fibrosis is a genetic disorder caused by
inheriting two faulty copies of the CFTR gene, one
from each parent. Parents who are carriers have one
normal and one mutated copy, often without
symptoms. When both parents are carriers, there's a
25% chance their child will inherit both mutated
copies, resulting in cystic fibrosis.
WHAT HAPPENS?
When the CFTR protein in the
cells does not work properly.
This causes the salt balance in
the body to be unequal and
leads to very thick mucus. This
mucus then blocks the passages
in certain parts of the body.
Lungs.
Digestion/Growth.
Liver, Bone Health, and
Reproductive Systems.
Trouble breathing and Frequent Lung
Infection
1
Infertility, especially in men
2
Skin that tastes very salty
Trouble with bowel movements or frequent,
greasy stools
4
3
Trouble growing or gaining weight
5
SYMPTOMS:
TREATMENT:
Patients can take medication to help
thin and clear the thick mucus from the
airways.
Enzymes to help absorb fat and
nutrients and antibiotics to treat
infection.
Medicine to make the mucus in the
lungs thinner and easier to cough up.
Doctors recommended the medication
oxygen therapy, pulmonary
rehabilitation, lung transplant.
Cystic  fibrosis.pdf

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Cystic fibrosis.pdf

  • 2. WHAT IS CYSTIC FIBROSIS? Cystic fibrosis (CF) is a genetic disorder. It is caused by mutations in the CFTR gene on Chromosome 7, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells.
  • 3. THIS DISEASE IS AN AUTOSOMAL RECESSIVE DISORDER. Cystic fibrosis is a genetic disorder caused by inheriting two faulty copies of the CFTR gene, one from each parent. Parents who are carriers have one normal and one mutated copy, often without symptoms. When both parents are carriers, there's a 25% chance their child will inherit both mutated copies, resulting in cystic fibrosis.
  • 4.
  • 5. WHAT HAPPENS? When the CFTR protein in the cells does not work properly. This causes the salt balance in the body to be unequal and leads to very thick mucus. This mucus then blocks the passages in certain parts of the body. Lungs. Digestion/Growth. Liver, Bone Health, and Reproductive Systems.
  • 6. Trouble breathing and Frequent Lung Infection 1 Infertility, especially in men 2 Skin that tastes very salty Trouble with bowel movements or frequent, greasy stools 4 3 Trouble growing or gaining weight 5 SYMPTOMS:
  • 7. TREATMENT: Patients can take medication to help thin and clear the thick mucus from the airways. Enzymes to help absorb fat and nutrients and antibiotics to treat infection. Medicine to make the mucus in the lungs thinner and easier to cough up. Doctors recommended the medication oxygen therapy, pulmonary rehabilitation, lung transplant.