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A 3-year-old Caucasian boy is brought to the clinic for a chronic productive cough not responding to antibiotics given recently. He has no fever or sick contacts. His medical history is significant for abdominal distention, failure to pass stool, and emesis as an infant. He continues to have bulky, foul-smelling stools. No diarrhea is present. He has several relatives with chronic lung and "stomach" problems, and some have even died at a young age. The examina- tion reveals an ill appearing, slender male in moderate distress. The lung exam reveals poor air movement in the base of lungs bilateral and coarse rhonchi throughout both lung fields. A chloride sweat test was performed and was positive, indicating cystic fibrosis (CF). What is the mechanism of the disease? How might gel electrophoresis assist in making the diagnosis?

A 3-year-old Caucasian boy is brought to the clinic for a chronic productive cough not responding to antibiotics given recently. He has no fever or sick contacts. His medical history is significant for abdominal distention, failure to pass stool, and emesis as an infant. He continues to have bulky, foul-smelling stools. No diarrhea is present. He has several relatives with chronic lung and "stomach" problems, and some have even died at a young age. The examina- tion reveals an ill appearing, slender male in moderate distress. The lung exam reveals poor air movement in the base of lungs bilateral and coarse rhonchi throughout both lung fields. A chloride sweat test was performed and was positive, indicating cystic fibrosis (CF). What is the mechanism of the disease? How might gel electrophoresis assist in making the diagnosis?

Biochemistry
Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
Section: Chapter Questions
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A 3-year-old Caucasian boy is brought to the clinic for a chronic productive cough not responding to antibiotics given recently. He has no fever or sick contacts. His medical history is significant for abdominal distention, failure to pass stool, and emesis as an infant. He continues to have bulky, foul-smelling stools. No diarrhea is present. He has several relatives with chronic lung and "stomach" problems, and some have even died at a young age. The examina- tion reveals an ill appearing, slender male in moderate distress. The lung exam reveals poor air movement in the base of lungs bilateral and coarse rhonchi throughout both lung fields. A chloride sweat test was performed and was positive, indicating cystic fibrosis (CF). What is the mechanism of the disease? How might gel electrophoresis assist in making the diagnosis?
Transcribed Image Text:A 3-year-old Caucasian boy is brought to the clinic for a chronic productive cough not responding to antibiotics given recently. He has no fever or sick contacts. His medical history is significant for abdominal distention, failure to pass stool, and emesis as an infant. He continues to have bulky, foul-smelling stools. No diarrhea is present. He has several relatives with chronic lung and "stomach" problems, and some have even died at a young age. The examina- tion reveals an ill appearing, slender male in moderate distress. The lung exam reveals poor air movement in the base of lungs bilateral and coarse rhonchi throughout both lung fields. A chloride sweat test was performed and was positive, indicating cystic fibrosis (CF). What is the mechanism of the disease? How might gel electrophoresis assist in making the diagnosis?
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