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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor=Mahmoud Sakr
|QuestionAuthor=Mahmoud Sakr (Reviewed by Will Gibson)
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Genetics
|MainCategory=Genetics
Line 20: Line 20:
|MainCategory=Genetics
|MainCategory=Genetics
|SubCategory=Gastrointestinal
|SubCategory=Gastrointestinal
|Prompt=1. 33 y/o Caucasian female presents with diarrhea and foul-smelling bulky stools for 3 weeks.  She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and now on her back as well. She can recall that her older brother suffered from diarrheal illness for along time in the past. Her vital signs and initial labs are unremarkable. Based on clinical suspicion, serologic testing was obtained and revealed Elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations likely predisposed this condition:
|Prompt=A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks.  She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition?
|Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases.
|Explanation=This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases.
|AnswerA=HLA DQ2 gene  
|AnswerA=HLA DQ2 gene
|AnswerAExp=correct
|AnswerAExp=
This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations
This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations
|AnswerB=IBD1 gene  
|AnswerB=IBD1 gene
|AnswerBExp=Incorrect
|AnswerBExp=
IBD1 is associated with inflammatory bowel diseases.
IBD1 is associated with inflammatory bowel diseases.
|AnswerC=HLA-DR2
|AnswerC=HLA-DR2
|AnswerCExp=Incorrect
|AnswerCExp=
HLA-DR2 is associated with inflammatory bowel diseases.
HLA-DR2 is associated with inflammatory bowel diseases.
|AnswerD=APC gene  
|AnswerD=APC gene
|AnswerDExp= Incorrect
|AnswerDExp=
APC gene mutation predisposes to Familial adenomatous polyposis
APC gene mutation predisposes to Familial adenomatous polyposis
|AnswerE=HNPCC gene
|AnswerE=HNPCC gene
|AnswerEExp=Incorrect
|AnswerEExp=
HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer.
HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer.
|RightAnswer=A
|RightAnswer=A
|Approved=Yes
|Approved=Yes
}}
}}

Revision as of 12:41, 3 April 2014
Author PageAuthor::Mahmoud Sakr (Reviewed by Will Gibson)
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Genetics
Sub Category SubCategory::Gastrointestinal
Prompt [[Prompt::A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks. She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition?]]
Answer A AnswerA::HLA DQ2 gene
Answer A Explanation AnswerAExp::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations
Answer B AnswerB::IBD1 gene
Answer B Explanation AnswerBExp::IBD1 is associated with inflammatory bowel diseases.
Answer C AnswerC::HLA-DR2
Answer C Explanation AnswerCExp::HLA-DR2 is associated with inflammatory bowel diseases.
Answer D AnswerD::APC gene
Answer D Explanation AnswerDExp::APC gene mutation predisposes to Familial adenomatous polyposis
Answer E AnswerE::HNPCC gene
Answer E Explanation AnswerEExp::HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer.
Right Answer RightAnswer::A
Explanation [[Explanation::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases.

Educational Objective:
References: ]]

Approved Approved::Yes
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