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Old 06-23-2012
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Question Child with recurrent abdominal pain!

An 11-year-old boy has experienced multiple bouts of severe abdominal pain for the past 6 years, but no other medical problems. His father and grandfather have been similarly affected. On examination during the last episode, bowel sounds were absent, and he exhibited marked diffuse abdominal pain with abdominal wall rigidity. A radiograph of the abdomen showed dilated loops of bowel with air-fluid levels. Laboratory studies showed serum amylase of 3320 U/L. This boy is most likely to have an inherited mutation involving which of the following genes?
(A) CFTR
(B) SMAD4
(C) K-RAS
(D) PRSS1
(E) SPINK1
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Old 06-23-2012
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Originally Posted by anomali View Post
An 11-year-old boy has experienced multiple bouts of severe abdominal pain for the past 6 years, but no other medical problems. His father and grandfather have been similarly affected. On examination during the last episode, bowel sounds were absent, and he exhibited marked diffuse abdominal pain with abdominal wall rigidity. A radiograph of the abdomen showed dilated loops of bowel with air-fluid levels. Laboratory studies showed serum amylase of 3320 U/L. This boy is most likely to have an inherited mutation involving which of the following genes?
(A) CFTR
(B) SMAD4
(C) K-RAS
(D) PRSS1
(E) SPINK1
I'm between D and E both associated with pancreatitis...?
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Old 06-23-2012
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Quote:
Originally Posted by anomali View Post
An 11-year-old boy has experienced multiple bouts of severe abdominal pain for the past 6 years, but no other medical problems. His father and grandfather have been similarly affected. On examination during the last episode, bowel sounds were absent, and he exhibited marked diffuse abdominal pain with abdominal wall rigidity. A radiograph of the abdomen showed dilated loops of bowel with air-fluid levels. Laboratory studies showed serum amylase of 3320 U/L. This boy is most likely to have an inherited mutation involving which of the following genes?
(A) CFTR
(B) SMAD4
(C) K-RAS
(D) PRSS1
(E) SPINK1
Had no Idea. but after research it's Hereditary pancreatitis associated with PRSS1 mutation.

can ou identify the source.. i've never heard of this
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Old 06-24-2012
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the child suffers from hereditary pancreatitis and most common mutation implicated is PRSS1- which codes for trypsinogen......
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Old 06-24-2012
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Good question had no idea
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Old 06-24-2012
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i have added a note to my FA under pancreatitis, under anomali.
Thx
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Gastrointestinal-Tract-, Genetics-, Pathology-, Step-1-Questions

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