Question | Answer |
What is Cystic Fibrosis? | Life-threatening genetic disease that causes mucus to build up and clog some of the organs in the body, paticulary the lungs and pancreas. |
When mucus clogs lungs | -makes breathing difficult
-causes bacteria to get trapped in airway
-causes inflammation and infections
-leading to lung damage |
When mucus clogs the digestive tract and pancreas | The mucus stops digestive enzymes from getting to the intestines. |
How do people with CF digest their food? | By taking replacement enzymes with meals and snacks- Helps them digest food to get proper nutrition |
Etiology of CF | Autosomal Recessive Genetic Disease |
Who gets CF? | -Approximately 30,000 children and adults in the US have CF
-One in every 31 Americans are carriers of the defective CF gene
-CF is most common in Caucasians, but it can affect all races |
S/S of CF | -Very salty tasting skin
-Persistent cough, at times with phlegm
-Frequent lung infections
-Wheezing or SOB
-Poor growth/weight gain in spite of good appitite
-Frequent bulky stools or difficulty in bowel movements |
How does the type of CF gene mutation a person has affect them? | Affects the severity of CF symptoms |
How many different CF mutations have been identified? | More than 1,400 different mutations |
How is CF diagnosed? | Sweat test - most common |
What is a sweat test? | -An electrode is placed on the skin (usually the arm) to stimulate the sweat gland
-Sweat is collected and the amount of chloride is measured
-High chloride level means person has CF |
What is Chloride? | a component of salt in the sweat |
What is the function of a healthy CF gene? | Makes a protein called CFTR |
What is CFTR? | Cystic Fibrosis conductance Transmembrane Regulator |
Where is CFTR found? | in the cells that line various organs, like the lungs and pancreas |
What is the function of CFTR? | Controls the movement of ions, like chloride and sodium in and out to these cells. |
What happens when the CFTR protein is defective? | -the salt balance in the body is disturbed
-The mucus in the respiratory tract becomes thick(because there is too little salt and water on the outside of the cells)
-Thick mucus clogs the airway which leads to infections that damage lungs. |
Tx for CF | -take capsules containing pancreatic enzymes with every meal and most snacks.
-Take multi-vitamins
-Use a mucolytic four or more times a day |
What is a Mucolytic? | medication that breaks down mucus |
Prognosis for CF | Medial survival age for CF in the US is 38 years. |
Two factors that affect a person with CF chance of survival. | -Severity of disease
-Time of diagnosis |