BSC 2346 AP 1 Module 1 Case Study.
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 ...
bsc 2346 ap 1 module 1 case study module 1 case study ben is a 6 month old infant who has a history of respiratory infections his parents are concerned that his
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BSC 2346 AP 1 Module 1 Case
Study.
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?
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