Module 1 Case Study:
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.
1. The two ways of diagnosing Cystic Fibrosis that I have found interesting are the Sweat
Chloride Test and IRT-DNA Testing. The Sweat Chloride Test is performed by placing a
chemical that is both colorless and odorless, while a small electrical stimulation is placed
on either an arm or leg to help the sweat glands produce sweat. That part of the test last
for about 5 minutes and typically feels like tingling or warm in the area the procedure is
being done on. (Cystic Fibrosis Foundations, n.d.) Once this takes place the sweat is
collected and sent to a laboratory to measure how much chloride is in the sweat. (Cystic
Fibrosis Foundations, n.d.). IRT-DNA Testing are only performed in certain states. This
test is performed by having blood drawn to complete a Immunoreactive Trypsinogent
(IRT) and a DNA test by drawing a blood sample and extracting cells to measure the
levels of IRT in the child’s blood. (Cystic Fibrosis Foundations, n.d.)
2. Cystic Fibrosis is an inherited condition. Which of the following describes the
inheritance pattern?
Autosomal
recessive
Autosomal
dominant
X-linked
recessive
X-linked
dominant
3. List at least 3 other symptoms of Cystic Fibrosis that are not mentioned in the case study about
Ben.
1: Salty tasting skin
2: Bulky, smelly, greasy bowel movements
3: Fatigue
4. Which of Ben's parents carried the defective gene which causes Cystic Fibrosis?
This study source was downloaded by 100000836551366 from CourseHero.com on 02-16-2022 05:45:02 GMT -06:00
https://www.coursehero.com/file/43170828/Module-1-Case-Studydocx/
, His mother
His father
Both Parents
Neither parent- this was passed on from a prior
generation
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?
25
%
50
%
75
%
0%
6. In your own words, briefly describe how the Cystic Fibrosis gene affects the cell
membrane.
The CF gene affects the cell membrane, it creates a protein called Cystic Fibrosis
Transmembrane Conductance Regulator that is mutated. It is found in cells that line the
lungs, sweat glands, and digestive track. When the protein is mutated, epithelial cells can no
longer regulate how chloride moves through the cell membrane. Which, in turn, causes an
interference in the water and sodium balance that is needed to create the lining of mucus in
the lungs, pancreas, and passageways to other organs. Because of this, the lining becomes
thick and sticky, which causes it to become stuck to the respiratory and digestive system.
7. Which of the following is not a common treatment for Cystic Fibrosis?
Pancreatic enzyme supplementation
Frequent blood transfusions
Using an inflatable vest that vibrates to loosen mucus in the chest
Prescription medications, such as mucolytics, inhaled through a nebulizer
. 8. In your own words, briefly describe why Ben’s skin may taste
salty.
Ben's skin taste salty due to the salt that is not being properly cycled
through the cells rises up with the sweat and is unable to
be reasbord which cause the salt to settle on the top layer of Ben's
skin, this causes his skin to taste salty.
9. Which of the following statements is true of Cystic Fibrosis?
A carrier of Cystic Fibrosis has a 100% chance of having a child with Cystic Fibrosis.
This study source was downloaded by 100000836551366 from CourseHero.com on 02-16-2022 05:45:02 GMT -06:00
https://www.coursehero.com/file/43170828/Module-1-Case-Studydocx/
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.
1. The two ways of diagnosing Cystic Fibrosis that I have found interesting are the Sweat
Chloride Test and IRT-DNA Testing. The Sweat Chloride Test is performed by placing a
chemical that is both colorless and odorless, while a small electrical stimulation is placed
on either an arm or leg to help the sweat glands produce sweat. That part of the test last
for about 5 minutes and typically feels like tingling or warm in the area the procedure is
being done on. (Cystic Fibrosis Foundations, n.d.) Once this takes place the sweat is
collected and sent to a laboratory to measure how much chloride is in the sweat. (Cystic
Fibrosis Foundations, n.d.). IRT-DNA Testing are only performed in certain states. This
test is performed by having blood drawn to complete a Immunoreactive Trypsinogent
(IRT) and a DNA test by drawing a blood sample and extracting cells to measure the
levels of IRT in the child’s blood. (Cystic Fibrosis Foundations, n.d.)
2. Cystic Fibrosis is an inherited condition. Which of the following describes the
inheritance pattern?
Autosomal
recessive
Autosomal
dominant
X-linked
recessive
X-linked
dominant
3. List at least 3 other symptoms of Cystic Fibrosis that are not mentioned in the case study about
Ben.
1: Salty tasting skin
2: Bulky, smelly, greasy bowel movements
3: Fatigue
4. Which of Ben's parents carried the defective gene which causes Cystic Fibrosis?
This study source was downloaded by 100000836551366 from CourseHero.com on 02-16-2022 05:45:02 GMT -06:00
https://www.coursehero.com/file/43170828/Module-1-Case-Studydocx/
, His mother
His father
Both Parents
Neither parent- this was passed on from a prior
generation
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?
25
%
50
%
75
%
0%
6. In your own words, briefly describe how the Cystic Fibrosis gene affects the cell
membrane.
The CF gene affects the cell membrane, it creates a protein called Cystic Fibrosis
Transmembrane Conductance Regulator that is mutated. It is found in cells that line the
lungs, sweat glands, and digestive track. When the protein is mutated, epithelial cells can no
longer regulate how chloride moves through the cell membrane. Which, in turn, causes an
interference in the water and sodium balance that is needed to create the lining of mucus in
the lungs, pancreas, and passageways to other organs. Because of this, the lining becomes
thick and sticky, which causes it to become stuck to the respiratory and digestive system.
7. Which of the following is not a common treatment for Cystic Fibrosis?
Pancreatic enzyme supplementation
Frequent blood transfusions
Using an inflatable vest that vibrates to loosen mucus in the chest
Prescription medications, such as mucolytics, inhaled through a nebulizer
. 8. In your own words, briefly describe why Ben’s skin may taste
salty.
Ben's skin taste salty due to the salt that is not being properly cycled
through the cells rises up with the sweat and is unable to
be reasbord which cause the salt to settle on the top layer of Ben's
skin, this causes his skin to taste salty.
9. Which of the following statements is true of Cystic Fibrosis?
A carrier of Cystic Fibrosis has a 100% chance of having a child with Cystic Fibrosis.
This study source was downloaded by 100000836551366 from CourseHero.com on 02-16-2022 05:45:02 GMT -06:00
https://www.coursehero.com/file/43170828/Module-1-Case-Studydocx/
