CYSTIC FIBROSIS PRACTICE QUESTIONS
WITH 100% CORRECT ANSWERS!!
What is cystic fibrosis?
an inherited autosomal recessive, chronic, progressive and frequently fatal disease of the
exocrine glands
What glands does the disease cystic fibrosis effect?
exocrine
What is one of the most common genetic disease diagnosed in childhood?
cystic fibrosis
milder forms of this disease may not be diagnosed until age 40?
cystic firbosis
Cystic fibrosis is most common in who?
Caucasians
Cystic fibrosis is very common in which religion?
amish
Does cystic fibrosis occur equally in males or females?
yes
The median survival age of an individual with cystic fibrosis is what?
37 years
Clients 18 years or older now constitute what percentage of the US opulation living with
CF?
45%
CF disease, is inherited, but unlike sickle cell which is homogenous, cystic is..
,heterogenous
The seveirty of disease in specific organs varies considerable between patients with cF
yes
The gene responsible for CF is what?
F508 deletion, approx 70 percent of cases
F508 deleation results in a mutation in cystic fibrosis transmembrane conductance
regulator, meaning that it is the (what) gene responsible for CF? almost 600 additional
mutations have been noted
Only gene
Cystic fibrosis is a what?
recessive genetic multi-system disease
What percentage of CF patients die of chronic infection of the airways? (bronchiectasis)
90 percent
What percentage of CF patients have pancreatic exocrine insufficiency?
90 percent
What percentage of males with CF are infertile? why?
99 percent, obstruction of the vas deferens
What percentage of CF patients have meconium ileus (obstruction) at birth?
20 percent
How many CF patients develop end stage liver fibrosis? (biliarycirrhosis)
5-7%
The primary lung defense mechanism is what?
mucous transport
, What fails in CF?
mucous transport in the lungs
What is key to normal mucus clearance, and also the key to the pathogenesis of a lung in a
patient with CF?
airway surface liquid (ASL) volume
What are some potential resp complications of cystic fibrosis? (6)
Sinusitis/nasal polyps/clubbing/pneumothorax/hemoptysis/pulmonary htn
What are some CV complications of cystic fibrosis? (1)
cor pulmonale (enlargement of the right side of the hearT)
What are some GI complications of CF?
abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great than 4),
malnutrition
abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great
than 4), malnutrition are all abdominal complications of what?
CF
what are some hepatic complications of CF?
biliary cirrhosis (due to enzyme CFTR)/hepatobiliary disease
what are some endocrine complications of CF?
diabetes
How can we screen for CF?
serum immunoreactive trypsinogen test in newborns
the IRT (immunoreactive trypsonogen test) is used in which population? what does it
detect?
newborns, elevation in serum levels of immunoreactive trypsin
WITH 100% CORRECT ANSWERS!!
What is cystic fibrosis?
an inherited autosomal recessive, chronic, progressive and frequently fatal disease of the
exocrine glands
What glands does the disease cystic fibrosis effect?
exocrine
What is one of the most common genetic disease diagnosed in childhood?
cystic fibrosis
milder forms of this disease may not be diagnosed until age 40?
cystic firbosis
Cystic fibrosis is most common in who?
Caucasians
Cystic fibrosis is very common in which religion?
amish
Does cystic fibrosis occur equally in males or females?
yes
The median survival age of an individual with cystic fibrosis is what?
37 years
Clients 18 years or older now constitute what percentage of the US opulation living with
CF?
45%
CF disease, is inherited, but unlike sickle cell which is homogenous, cystic is..
,heterogenous
The seveirty of disease in specific organs varies considerable between patients with cF
yes
The gene responsible for CF is what?
F508 deletion, approx 70 percent of cases
F508 deleation results in a mutation in cystic fibrosis transmembrane conductance
regulator, meaning that it is the (what) gene responsible for CF? almost 600 additional
mutations have been noted
Only gene
Cystic fibrosis is a what?
recessive genetic multi-system disease
What percentage of CF patients die of chronic infection of the airways? (bronchiectasis)
90 percent
What percentage of CF patients have pancreatic exocrine insufficiency?
90 percent
What percentage of males with CF are infertile? why?
99 percent, obstruction of the vas deferens
What percentage of CF patients have meconium ileus (obstruction) at birth?
20 percent
How many CF patients develop end stage liver fibrosis? (biliarycirrhosis)
5-7%
The primary lung defense mechanism is what?
mucous transport
, What fails in CF?
mucous transport in the lungs
What is key to normal mucus clearance, and also the key to the pathogenesis of a lung in a
patient with CF?
airway surface liquid (ASL) volume
What are some potential resp complications of cystic fibrosis? (6)
Sinusitis/nasal polyps/clubbing/pneumothorax/hemoptysis/pulmonary htn
What are some CV complications of cystic fibrosis? (1)
cor pulmonale (enlargement of the right side of the hearT)
What are some GI complications of CF?
abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great than 4),
malnutrition
abd pain and discomfort, gassiness/rectal prolapse/gallstones/intussuception (age great
than 4), malnutrition are all abdominal complications of what?
CF
what are some hepatic complications of CF?
biliary cirrhosis (due to enzyme CFTR)/hepatobiliary disease
what are some endocrine complications of CF?
diabetes
How can we screen for CF?
serum immunoreactive trypsinogen test in newborns
the IRT (immunoreactive trypsonogen test) is used in which population? what does it
detect?
newborns, elevation in serum levels of immunoreactive trypsin
