Cystic Fibrosis Homework Assigned 2/1

Cystic Fibrosis Homework Due 2/19

Worth 60 pts

Woe to That Child: A Case of Cystic Fibrosis

Adapted from Dayton J. Ford, St. Louis College of Pharmacy
Dr. Jeremy Aldritch examined the four-month-old infant that had
been admitted to Barnes-Jewish Hospital earlier in the day. The
babys parents, Jayne and David Horowitz, had brought young
Alvin to the emergency room because he had been suffering from
chronic cough and diarrhea for almost a week. In addition, they
said that Alvin would sometimes wheeze a lot more than they
thought was normal for a child with a cold. Their pediatrician had
told them that Alvin had a cold and would be better in a few days.

After Dr. Aldritch completed his examination, he asked Alvins

parents to sit with him in his office to discuss Alvins situation.
Doctor, Alvins going to be okay, isnt he? asked Jayne
anxiously.
Its just a cold after all, isnt it, doctor? interjected David.
No, Im afraid it is more serious than a cold, Mr. and Mrs. Horowitz. I believe that your son may
be having trouble getting the mucus, or phlegm, out of his lungs. There is an inherited disease
call cystic fibrosis that may be the culprit, but we wont know for sure if Alvin has this disease
until further testing is completed.
Cystic fibrosis? Isnt that caused by smoking? asked Jayne, as she slumped over slightly in her
seat, feeling suddenly very tired and lost.
No, Mrs. Horowitz. You may be thinking of bronchitis or emphysema, which may both be caused
by smoking. Cystic fibrosis is a genetic disease that an individual is born with. The symptoms
usually appear within the first year of life and, if diagnosed early enough, is a treatable disease.
Here, I have some pamphlets that may help you to understand cystic fibrosis a little better.
Dr. Aldritch dug through his desk and removed several pamphlets, most with photographs of
parents holding a young infant on the cover, and handed them to Mrs. Horowitz.
Is this fatal, doctor, I mean our son isnt going to, to. David couldnt finish the thought.
No, no, your son will be fine for now, there is no immediate danger. Cystic fibrosis, or CF for
short, is a serious enough disease, but it is not fatal in the short term and there are treatments
that can help your son live a relatively normal and healthy life. You see, what has happened is
that Alvin was born with this disease, caused by a faulty gene within his DNA, and it has just now
begun to show itself. He has a mutation in cystic fibrosis transmembrane conductance regulator
(CFTR) gene. The coughing that you were initially concerned about occurs in those who have CF
because their lungs are filled with mucus. Normally your lungs produce a slightly viscous, more
fluid type of mucus that acts to trap debris and dust particles so that they may be swept out of
the lungs. This system helps to keep the air passages clear. In children with CF, however, the
mucus that is secreted into the lungs is more viscous and less fluid, or contains less water than

normal; therefore, it tends to clog the air passages and triggers a coughing reflex in order to
expel the mucus from the lungs.
You said that there are treatments, doctor, but is there a cure? How long will Alvin have to live
like this? Jayne asked.
Im afraid that there is no cure yet, Mrs. Horowitz. There are some clinical trials being conducted
on various treatments for the disease, but the only real cure for a genetically inherited disease is
gene therapy. I believe that within Alvins lifetime we just may have a cure. I know that you have
a lot more questions, but I want you to rest assured that your son will be OK. I am going to go
check on Alvin and see how soon the lab results will be ready. While I am gone, I will have a
group of cell biology students answer all of your questions about CF.
In order to give Mr. and Mrs. Horowitz the correct answers to their questions, you will need to
know the answers to the question listed below.
Questions:
1. Describe the structure of CFTR. You must provide a written description for full credit. A
picture on its own is not enough. A picture with a description is acceptable. (5 points)
2. What is the function of CFTR? (details are important) (5 points)
3. Why is the mucus thicker than normal in CF patients? A good answer will include a
description of how osmosis is affected by CF. (5 points)
4. The most common mutation causing CF is a deletion of F508. Please note that your
textbook incorrectly states that F509 is the most common deletion. Your textbook is wrong
and F508 is the most common deletion. What are the cellular consequences of the F508
deletion? (5 points)
5. What are the organismal consequences of the F508 deletion? i.e. how does this mutation
affect a human being? (5 points)
6. How would you use gene therapy to treat CF? What are liposomes and why would they be
used during gene therapy to treat CF? (5 points)

Today
Working individually, underline or list terms or phrases that seem to be important for
understanding what the case is about.
In a group, discuss the items you underlined. Think about what you know that is related to the
case and its topics. Fill out the Know section of the chart. Keep track of questions that arise.
Identify what you Need to Know to answer the questions. Identify at least 6 items that you need
to know to answer the questions.
At the end of class turn in 1 Know/Need to Know chart per group. Make sure it has the
names (first and last) of everyone in your group.

Due 2/19 by the start of lecture through Turnitin.

Individually, turn in your answers to the questions on Blackboard through TurnItIn.