CYSTIC FIBROSIS TEST 4 QUESTIONS
WITH 100% CORRECT ANSWERS!!
What is the role of the CFTR protein in the body?*
It regulates the movement of chloride, sodium, bicarbonate, and water in and out of epithelial
cells to maintain salt and water balance.
What gene is mutated in cystic fibrosis (CF)?*
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)
On which chromosome is the CFTR gene located?*
Chromosome 7
What is the chance of having a child with CF if both parents are carriers?*
25%
What is the chance of having a child who is a CF carrier if both parents are carriers?*
50%
What is the chance of having a child who is neither affected nor a carrier if both parents
are carriers?*
25%
What does a mutation in the CFTR gene cause?*
It can result in no CFTR protein, not enough protein, or misfolded protein—leading to abnormal
chloride transport.
By what age are the majority of CF patients diagnosed?
By 2 years of age.
What are common early signs that may indicate CF?
Chronic respiratory symptoms or failure to thrive.
, What is considered the gold standard for diagnosing CF?*
Sweat test.
What is the first test used in the CF Newborn Screening Program?
Immunoreactive trypsinogen (IRT).
What chloride concentration in sweat is diagnostic of CF?*
≥ 60 mmol/L.
How many positive sweat test results are required for a CF diagnosis?*
Two positive tests.
What is the most common CFTR mutation seen in people with cystic fibrosis?*
F508del found in 85.5% of individuals with CF
G542X found in 4.5% of CF patients and results in a premature stop codon
G551D affects the glycine residue at position 551 and is found in 4.2% of patients
R117H involves a substitution at position 117 and affects 3.3% of CF patients
What are components of gastrointestinal/nutritional care in CF?
Pancreatic enzymes, proton pump inhibitors, H2 blockers, constipation treatments, and vitamins.
What is used to treat CF-related diabetes?
Insulin (both basal and bolus).
What are common respiratory medications used in CF?
Bronchodilators, mucolytics, inhaled antibiotics, anti-inflammatories, and CFTR modulators.
What therapies are included in airway clearance for CF?
Airway clearance techniques and high-frequency chest wall oscillation (the vest).
What is involved in pulmonary exacerbation treatment for CF?
Increased airway clearance therapy and IV/oral antibiotics.
WITH 100% CORRECT ANSWERS!!
What is the role of the CFTR protein in the body?*
It regulates the movement of chloride, sodium, bicarbonate, and water in and out of epithelial
cells to maintain salt and water balance.
What gene is mutated in cystic fibrosis (CF)?*
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)
On which chromosome is the CFTR gene located?*
Chromosome 7
What is the chance of having a child with CF if both parents are carriers?*
25%
What is the chance of having a child who is a CF carrier if both parents are carriers?*
50%
What is the chance of having a child who is neither affected nor a carrier if both parents
are carriers?*
25%
What does a mutation in the CFTR gene cause?*
It can result in no CFTR protein, not enough protein, or misfolded protein—leading to abnormal
chloride transport.
By what age are the majority of CF patients diagnosed?
By 2 years of age.
What are common early signs that may indicate CF?
Chronic respiratory symptoms or failure to thrive.
, What is considered the gold standard for diagnosing CF?*
Sweat test.
What is the first test used in the CF Newborn Screening Program?
Immunoreactive trypsinogen (IRT).
What chloride concentration in sweat is diagnostic of CF?*
≥ 60 mmol/L.
How many positive sweat test results are required for a CF diagnosis?*
Two positive tests.
What is the most common CFTR mutation seen in people with cystic fibrosis?*
F508del found in 85.5% of individuals with CF
G542X found in 4.5% of CF patients and results in a premature stop codon
G551D affects the glycine residue at position 551 and is found in 4.2% of patients
R117H involves a substitution at position 117 and affects 3.3% of CF patients
What are components of gastrointestinal/nutritional care in CF?
Pancreatic enzymes, proton pump inhibitors, H2 blockers, constipation treatments, and vitamins.
What is used to treat CF-related diabetes?
Insulin (both basal and bolus).
What are common respiratory medications used in CF?
Bronchodilators, mucolytics, inhaled antibiotics, anti-inflammatories, and CFTR modulators.
What therapies are included in airway clearance for CF?
Airway clearance techniques and high-frequency chest wall oscillation (the vest).
What is involved in pulmonary exacerbation treatment for CF?
Increased airway clearance therapy and IV/oral antibiotics.
