Module 01 Case Study

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. 

QUESTION 2

Cystic Fibrosis is an inherited condition. Which of the following describes the inheritance pattern?

		X-linked dominant
		Autosomal recessive
		Autosomal 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.

QUESTION 4

Which of Ben's parents carried the defective gene which causes Cystic Fibrosis?

		Neither parent- this was passed on from a prior generation
		Both Parents
		His mother
		His father

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?

		50%
		25%
		0%
		75%

QUESTION 6

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

QUESTION 7

Which of the following is not a common treatment for Cystic Fibrosis?

		Pancreatic enzyme supplementation
		Frequent blood transfusions
		Prescription medications, such as mucolytics, inhaled through a nebulizer
		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.

QUESTION 9

Which of the following statements is true of Cystic Fibrosis?

		Cystic Fibrosis is generally diagnosed between 20-40 years of age.
		A carrier of Cystic Fibrosis has a 100% chance of having a child with Cystic Fibrosis.
		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?

		Muscle tissue
		Epithelial tissue
		Connective 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?

		HIV antibodies
		WBC
		Platelets
		Hemoglobin

QUESTION 12

Taylor’s test results provide a definitive diagnosis of sickle cell disease. Which other symptom would be common for his disease?

		Bleeding
		Fatigue
		Increased energy
		Weight gain

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.

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?

		Both of Taylor’s parents carry the gene for SCD.
		This disease trait skips generations and neither of his parents is a carrier for the SCD gene.
		Taylor’s father carries the gene for SCD and his mother does not.
		Taylor’s mother carries the gene for SCD and his father does not.

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?

		100%
		50%
		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.

 True

 False

QUESTION 17

If a red blood cell is affected by sickle cell disease, which of the following is true?

		Abnormal hemoglobin causes abnormal structure of the red blood cell.
		The nucleus of the red blood cell has genetic defects.
		The plasma membrane of the red blood cell allows too much fluid into the cell because of a hypertonic environment.
		The plasma membrane of the red blood cell allows too much fluid into the cell because of a hypotonic environment.

QUESTION 18

Sickle cell disease can be detected by prenatal screening. In your own words, briefly describe this process.

QUESTION 19

Which of the following is NOT a possible treatment for sickle cell disease?

		Hematopoietic stem cell transplantation
		Preventative antibiotics
		Liver transplant
		Red blood cell transfusions

QUESTION 20

In your own words, briefly describe how sickle cell disorder affects homeostasis in the human body.