Deck 13: Cystic Fibrosis

Question 1

A patient recently diagnosed with CF comes into your office. The patient states that they have had difficulty breathing and have been feeling dizzy and light-headed. The patient is concerned that these symptoms are related to their CF. Which system is primarily affected by patients with Cystic Fibrosis?

A) Cardiovascular
B) Pulmonary/Respiratory
C) Nervous
D) Musculoskeletal

Answer 1

B
Explanation: The pulmonary/respiratory, digestive, and reproductive systems are typically most affected by Cystic Fibrosis. The most common cause of morbidity in CF is pulmonary disease; additionally, chronic pulmonary infections occur in most patients with CF.. An individual with CF produces thick mucous secretions that clog that airways, increasing the likelihood of infection and making it harder to breathe.

Question 2

Among which population is CF the most common lethal inherited disorder?

A) Caucasians
B) Ashkenazi Jews
C) African-Americans
D) Asians

Answer 2

A
Explanation: The ACMG recommends that all Caucasians of non-Jewish descent and Ashkenazi Jews get screened, but CF is still the most common lethal inherited disorder among Caucasians in the U.S.

Question 3

A 25 y/o patient with a history of Cystic Fibrosis comes in complaining of a productive cough, fever, chills, and shortness of breath. Upon physical exam, the patient has dullness to percussion, and increased tactile fremitus. Based on these findings, what are the two most common shapes you are likely see on gram stain and culture?

A) Gram + cocci in pairs and Gram + cocci in clusters
B) Gram + cocci in pairs and Gram - rods
C) Gram + cocci in clusters and Gram - rods
D) Gram - curved, helical "S" shaped organism

Answer 3

C
Explanation: S. aureus (Gram + cocci in clusters) and P. aeruginosa (Gram - rods) are the most common causes of pneumonia in patients with CF. Gram + cocci in pairs indicate an infection with S. pneumo, which is not the most likely organism to cause pneumonia in a patient with CF.

Question 4

A 28 y/o male patient with a history of Cystic Fibrosis comes into your office with his wife. They are trying to conceive and are having difficulty. Which of the following information would you tell your patient?

A) Tell the patient that most males with CF are infertile due to the absence of a vas deferens resulting in azoospermia.
B) Tell the patient that even though he has congenital absence of his vas deferens he is still fertile and they should consult a fertility specialist.
C) Tell the patient that most males with CF are infertile due to the absence of the seminal vesicle resulting in azoospermia.
D) Tell the patient that it is not him and probably his wife who is infertile and she needs to see a fertility specialist.

Question 5

A woman who is a carrier for the CF gene marries a man who is also a carrier of the gene. They come in to see you because they are trying to get pregnant and want to know the likelihood of having an offspring with CF. What will you tell them?

A) 75%
B) 33%
C) 100%
D) 25%

Question 6

Which types of gene mutations represent a majority of CF mutations, ultimately leading to the wide variety of clinical phenotypes in patients with Cystic Fibrosis?

A) Frameshift, splice site, missense
B) Missense, splice site, nonsense
C) Missense, splice site
D) Frameshift, splice site, nonsense

Question 7

The mother of a young boy with Cystic Fibrosis presents to your office. She would like to know if there is anything that can be done to improve the symptoms her son experiences as a result of his CF. Which of the following medications can help improve quality of life in patients with CF?

A) Albuterol
B) Guanfenesin
C) Ciprofloxacin
D) All of the above

Question 8

Which of the following gene mutations are associated with CF?

A) GFTR
B) CFTR and GFTR
C) CFTR
D) FTFR

Question 9

Chloride channels are disrupted in patients with Cystic Fibrosis. What implications does this have on ion transport, water, and airway clearance?

A) Defective chloride transport and enhanced sodium absorption lead to a net increase in water absorption, thinned airway surface liquids, and decreased ciliary clearance.
B) Defective chloride transport and enhanced sodium absorption lead to a net decrease in water absorption, thinned airway surface liquids, and decreased ciliary clearance.
C) Defective sodium transport and enhanced chloride absorption lead to a net increase in water absorption, thinned airway surface liquids, and decreased ciliary clearance.
D) Defective chloride transport and enhanced calcium absorption lead to a net decrease in water absorption, thinned airway surface liquids, and decreased ciliary clearance.

Question 10

Which aspect of the pathophysiology of CF is responsible for failure to thrive in patients with CF?

A) Biliary cirrhosis
B) Pancreatic fibrosis
C) Cor pulmonale
D) Meconium ileus