 Question 1

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 A sweat test is typically the first test to be completed when testing for Cystic Fibrosis. A sweat
Answer: chloride level over 60 typically means the patient has Cystic Fibrosis. Another form of testing is
through a blood sample. If the child carries both recessive genes from the parents, then there is a
mutation of the CFTR gene located in chromosome seven. 

Cystic fibrosis. (2017, October 10). Retrieved April 5, 2019, from 

     https://labtestsonline.org/conditions/cystic-fibrosis
Correct [None]
Answer:
Response [None Given]
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 Question 2
Cystic Fibrosis is an inherited condition. Which of the following describes the inheritance pattern?

Answers: Autosomal dominant

 
Autosomal recessive

X-linked dominant

X-linked recessive

 Question 3
List at least 3 other symptoms of Cystic Fibrosis that are not mentioned in the case study about
Ben.
Selected Salty tasting skin, greasy and bulk stool with difficulty passing a bowel movement, and male
Answer: infertility are three other possible symptoms that can occur from Cystic Fibrosis.
Correct [None]
Answer:
Response [None Given]
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 Question 4
Which of Ben's parents carried the defective gene which causes Cystic Fibrosis?
 Answers: Neither parent- this was passed on from a prior generation

His father

His mother

 
Both Parents

 Question 5
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?
Answers: 75%

50%

 
25%

0%

 Question 6
In your own words, briefly describe how the Cystic Fibrosis gene affects the cell membrane.

Selected The gene is responsible for giving the body instructions on making a protein called the cystic
Answer: fibrosis transmembrane conductance regulator. This protein then channels across the membranes
of other cells that are responsible for enzymes such as sweat, mucus and digestive juices. 
Correct [None]
Answer:
Response [None Given]
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 Question 7
Which of the following is not a common treatment for Cystic Fibrosis?
Answers: Prescription medications, such as mucolytics, inhaled through a nebulizer

 
Frequent blood transfusions

Pancreatic enzyme supplementation

Using an inflatable vest that vibrates to loosen mucus in the chest

 Question 8
In your own words, briefly describe why Ben’s skin may taste salty.
Selected Answer: The sweat chloride that is being expressed through Ben's pores. 
 Correct Answer: [None]
Response Feedback: Next time describe "WHY"

 Question 9
Which of the following statements is true of Cystic Fibrosis?
Answers: A carrier of Cystic Fibrosis has a 100% chance of having a child with Cystic Fibrosis.

Cystic Fibrosis is generally diagnosed between 20-40 years of age.

Cystic Fibrosis involved multiple mutations of more than one gene.

 
Cystic Fibrosis affects the ability of chloride ions to pass through the cell membrane.
 Question 10
Which tissue type is most affected by the excess mucus produced in Cystic Fibrosis?
Answers: Connective tissue

 
Epithelial tissue

Muscle tissue

Nervous tissue
 Question 11
Taylor, a 6-month-old infant, has recently been very fussy and appears to be in pain
when his parents touch or squeeze his hands and feet. Both extremities have shown
swelling that appears to be increasing slowly over time. He had a condition known as
jaundice when he was born and his parents are noticing that his skin is starting to
have that same yellowish color that it did when he was a newborn. Taylor’s parents
are very concerned and take him to his pediatrician. 
  
Taylor’s pediatrician decides to perform blood tests because he is concerned that Taylor may have
sickle cell disease. If he is correct, which of the following tests would be abnormal?
Answers:
 
Hemoglobin

Platelets

HIV antibodies

WBC
 Question 12
Taylor’s test results provide a definitive diagnosis of sickle cell disease. Which other symptom would be
common for his disease?
 Answers:
 
Fatigue

Increased energy

Weight gain

Bleeding
 Question 13
Why would the physician be interested in Taylor’s parents’ ethnicity? In your own words, provide a brief
explanation of why ethnicity may be related to Taylor’s diagnosis.

Selected Answer: Because sickle cell anemia is predominate in the African and African-American
community.
Correct Answer: [None]
Response Feedback: [None Given]
 Question 14
Taylor’s parents have never been tested for sickle cell disease because they have never had any of
the common signs or symptoms. Knowing that Taylor has sickle cell disease, which of the following
statements is true?
Answers: Taylor’s mother carries the gene for SCD and his father does not.

Taylor’s father carries the gene for SCD and his mother does not.

This disease trait skips generations and neither of his parents is a carrier for the SCD
gene.

 
Both of Taylor’s parents carry the gene for SCD.

 Question 15
If Taylor’s parents have another child, what is the likelihood that the second child will be a CARRIER
of the sickle cell trait?
Answers:
 
50%
 100%

0%

25%
 Question 16
Sickle cell disease is a dominant disease, which means both parents of an affected individual must carry the
sickle cell trait.

Answers: True

 False
 Question 17
If a red blood cell is affected by sickle cell disease, which of the following is true?
Answers: The plasma membrane of the red blood cell allows too much fluid into the cell because
of a hypotonic environment.

 
Abnormal hemoglobin causes abnormal structure of the red blood cell.

The plasma membrane of the red blood cell allows too much fluid into the cell because
of a hypertonic environment.

The nucleus of the red blood cell has genetic defects.

 Question 18
Sickle cell disease can be detected by prenatal screening. In your own words, briefly describe this
process. 
Selected An Amimocentesis is a test where they remove a small amount of amniotic fluid surrounding
Answer: the baby and test for multiple genetic defects. 
Correct Answer: [None]
Response [None Given]
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 Question 19
Which of the following is NOT a possible treatment for sickle cell disease?
Answers: Hematopoietic stem cell transplantation

Red blood cell transfusions

 
 Liver transplant

Preventative antibiotics
 Question 20
In your own words, briefly describe how sickle cell disorder affects homeostasis in the human body.
Selected Because of the affect with sickle cell disease has on the red blood cells, there is a negative
Answer: impact on homeostasis surrounding oxygen transportation throughout the body.
Correct [None]
Answer:
Response [None Given]
Feedback: