Cystic Fibrosis Flashcards
What is the most common, fatal inherited disease in the U.S.?
CF
On what chromosome is the defective gene found?
Chromosome #7
About how many mutations are identified and what’s the most common?
12, delta F508 (68%)
Even though all racial and ethnic groups are affected, what is the most common one?
Caucasians of northern European ancestry
How many CF babies are annually born in the U.S.?
2500
In what year was the defective gene identified?
1989
What does CFTR stand for?
cystic fibrosis transmembrane regulator
Examples of respiratory related conditions.
Repeat infections Chronic cough Recurrent bronchitis & pneumonia Bronchiectasis Pneumothorax Hemoptysis Digital clubbing Cor pulmonale Sinusitis Allergic bronchopulmonary aspergillosis Nasal polyps
What happens with the hepatobiliary system?
liver disease
prolonged neonatal jaundice
What happens with the reproductive tract?
delayed puberty
infertility
What are the pulmonary infections?
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
