NIU nurs308 Cystic Fibrosis Case Study latest 2018

Cystic
Fibrosis Case Study

Part I – The Meeting

Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and
unbending a small paper clip. “Sarah and Michael, it’s good to meet you,”
welcomed the genetic counselor, as she entered the room. “I apologize for being
late, but I was just meeting with another couple. Let’s see, you’d like to have
a child, but you’re concerned because of your family history of cystic
fibrosis.”

“Yes,” Sarah replied softly. “Mike and I met at a CF support
group meeting a few years ago. He had a younger brother who died of cystic
fibrosis, and I had a younger sister. We saw the painful lives they
had—difficulty breathing, the constant respiratory infections. Although the
treatments for CF are better now, we just don’t know if we can…” she trailed
off.

“I can certainly understand your concern,” the genetic
counselor responded sympathetically. “That’s where I hope to help, by providing
as much information and advice as I can. I’m glad that you came to see me
before you became pregnant so I can fully advise you of all options
beforehand.”

“To start, let’s go over what we know about your case so
far,” continued the genetic counselor. She pulled out a pad of paper, which she
placed on the table in front of Sarah and Michael, and began to draw a series
of circles and squares connected by lines.

“As I recall, both sets of parents did not display any of
the symptoms of cystic fibrosis, right?” “Yes,” said Sarah and Michael in
unison. The genetic counselor replied, “Ok, well that means….”

Questions

Consult your textbook and trustworthy Internet sites to
answer the following questions:

See H & M pp. 718-720

University of Utah Health Sciences. (201_). Cystic fibrosis.
Learn.Genetics—Genetic Science Learning Center. Retrieved from
http://learn.genetics.utah.edu/content/disorders/singlegene/cf/

US National Library of Medicine. (2012). Cystic fibrosis.
Genetics home reference—your guide to understanding genetic conditions.
Retrieved from https://ghr.nlm.nih.gov/condition/cystic-fibrosis

1. Which
organs are affected by cystic fibrosis?

2. What are
the disease symptoms?

Part II

“So, what’s next?” asked Mike. “First, we’ll collect DNA
samples from both of you. We’ll then analyze your CF genes for the most common
mutations to see if you are carriers for this recessive genetic disease” the
genetic counselor replied.

A few weeks later, the genetic counselor welcomed back Sarah
and Mike. “We’ve received the results of your genetic tests for common CF
mutations. Michael, you’re a carrier of the most common disease allele,
delta-F508, and Sarah, you tested negative for the most common CF mutations.”
“Thank goodness,” Sarah replied with relief. “That means it’s safe for us to
have a child, right?” “Not exactly,” cautioned the genetic counselor. “Since
Sarah tested negative for CF, it seems we don’t have much to worry about,
right?” said Michael, pointing to the pedigree in which Sarah is not a carrier.
“So, what did you mean when you said not exactly?”

The genetic counselor grabbed her laptop computer and
positioned it in front of the three of them. Her fingers quickly typed out a
web address and the words “OMIM – Online Mendelian Inheritance of Man”
stretched across the browser window. “We can learn a lot more about this
disease from this site. It will begin to explain why I said not exactly when
Sarah asked if it was safe to conceive a child.”

Questions

The Online Mendelian Inheritance of Man (OMIM) is a catalog
of known human genetic diseases. Go to OMIM at http://www.ncbi.nlm.nih.gov/omim
and search with the keyword “cystic fibrosis.” Examine the OMIM record entitled
“602421 cystic fibrosis transmembrane conductance regulator.”

5. Scroll down the
webpage and look closely at the section on “Allelic Variants.” Is the
delta-F508 mutation the only known alteration of the CFTR gene or are there
additional variants associated with cystic fibrosis?

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