A concerned mother brings her eight-month-old baby boy into the ER. She states that he has been having foul-smelling, runny stools for about a month. Even though his appetite is healthy, the baby has lost a couple of pounds within the last month. The mother has not introduced any new foods into his diet recently, and she denies any contacts with similar symptoms. She states that when she kisses her son, he tastes salty. Upon reviewing his chart, you find that he has suffered three respiratory infections since birth and was diagnosed with meconium ileus at birth. What is the most likely diagnosis?
A. Celiac sprue
B. Cystic fibrosis
C. Gastroenteritis
D. Irritable bowel syndrome
E. Lactose intolerance
asmi Forum Hero
Topics: 1043 Posts: 4,609
02/14/04 - 01:09 PM
#2
cystic fibrosis..
dxtxpx Forum Guru
Topics: 259 Posts: 1,233
02/14/04 - 03:09 PM
#3
b) CF
mjl1717 Forum Hero
Topics: 958 Posts: 5,463
02/14/04 - 06:37 PM
#4
As I remember 70% of CF is due to a large deletion at #508 (concerning phenylalanine) ___________________ Smell the coffee! "Is That an Osler move??"
auubar Forum Senior
Topics: 30 Posts: 182
02/15/04 - 02:38 AM
#5
cystic fibrosis
kiranmayi Forum Guru
Topics: 237 Posts: 407
02/15/04 - 12:35 PM
#6
correct
Idiopathic Forum Guru
Topics: 19 Posts: 641
02/15/04 - 12:39 PM
#7
"mjl1717" wrote: As I remember 70% of CF is due to a large deletion at #508 (concerning phenylalanine)
CF is a three-base deletion, that does not result in a frameshift, just a loss of a single phenylalanine residue. Just to clarify.
