Case Study AP1
• Question 1
1 out of 1 points
Ben is a 6-month old infant who has a history of respiratory infections. His parents are
concerned that his symptoms are worsening and bring him to his pediatrician, Dr.
Johnson. They explain that he has a persistent cough and sometimes coughs up phlegm.
He also experiences periodic wheezing and shortness of breath. Dr. Johnson notes that
his weight and height have not increased as much as predicted since his last visit. He is
concerned that Ben may have a genetic condition called Cystic Fibrosis.
There are several ways to test for Cystic Fibrosis. In your own
words, briefly describe 2 diagnostic tests that Dr. Johnson could use
to determine if Ben has Cystic Fibrosis.
Selected
Answer: Two tests that Dr. Johnson could use would be a snasal potential difference test, or a
sweat test. With a nasal potential difference test the doctor will check the cells in his nose
to see how well the salt is moving in and out of them. He can check the cells by using
electrodes on the lining of the nose. If the results come back abnormal this could show
positive for Cystic Fibrosis. The second test that can be done is a sweat test. The doctor
will rub a special chemical that causes sweating and then will create a small electrical
current on the area. The sweat will be wiped off on a cloth and taken for analyzing.
Someone who has too much salt in their sweat can be diagnosed with Cystic Fibrosis. A
positive diagnosis will require two positive results where the tests are done of different
days. https://www.webmd.com/children/tc/cystic-fibrosis-exams-and-tests#1
https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
Respons
e Nice job...great resources used for research.
Feedbac
k:
• Question 2
1 out of 1 points
Cystic Fibrosis is an inherited condition. Which of the following describes the
inheritance pattern?
Selected
Autosomal
Answer:
recessive
• Question 3
1 out of 1 points
List at least 3 other symptoms of Cystic Fibrosis that are not mentioned in the case
study about Ben.
Selected
Answer:
Three other symptoms of Cystic Fibrosis are exercise intolerance, repeated lung
infections, severe constipation or foul smelling greasy stool.
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-
20353700
Response
[None Given]
Feedback:
• Question 4
1 out of 1 points
, Which of Ben's parents carried the defective gene which causes Cystic Fibrosis?
Selected
Both
Answer:
Paretns
• Question 5
1 out of 1 points
If both of Ben’s parents are Cystic Fibrosis carriers and plan to have another child, what are
the chances that their next child would NOT be a carrier and would NOT be affected by
Cystic Fibrosis?
Selected 25
Answer: %
• Question 6
1 out of 1 points
In your own words, briefly describe how the Cystic Fibrosis gene affects the cell
membrane.
Selected
Answer:
The Cystic Fibrosis gene affects the the cell membrane by creating a protein CTFR
(Cystic Fibrosis Transmembrane Conductance Regulator) that is mutated. This protein is
in cells that normally line the lungs, sweat glands, and digestive track. When this protein
is mutated epithelial cells can no longer regulate how chloride moves through the cell
membrane. This causes a disruption in water and sodium balance needed to create the
thin lining of mucous in the lungs, pancreas and passageways to other organs. With this
disruption in balance, the thin lining becomes thick, sticky, and stuck in the respiratory
and digestive systems.
Respons https://kidshealth.org/en/parents/cf.html
e
Feedbac [None Given]
k:
• Question 7
1 out of 1 points
Which of the following is not a common treatment for Cystic
Fibrosis?
Selected
Answer: Frequent blood transfusions
• Question 8
1 out of 1 points
In your own words, briefly describe why Ben’s skin may taste
salty.
Selected
Answer:
When Ben sweats the salt that is not properly moving through the cells rise up with the
water and is not reabsorbed. When the sweat dries the salt is still on the outer layer of
skin allowing his skin to taste salty.