WBR0116

Author	PageAuthor::Mahmoud Sakr
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Genetics
Sub Category	SubCategory::Gastrointestinal
Prompt	[[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:]]
Answer A	AnswerA::HLA DQ2 gene
Answer A Explanation	[[AnswerAExp::correct 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::Incorrect IBD1 is associated with inflammatory bowel diseases.]]
Answer C	AnswerC::HLA-DR2
Answer C Explanation	[[AnswerCExp::Incorrect HLA-DR2 is associated with inflammatory bowel diseases.]]
Answer D	AnswerD::APC gene
Answer D Explanation	[[AnswerDExp::Incorrect APC gene mutation predisposes to Familial adenomatous polyposis]]
Answer E	AnswerE::HNPCC gene
Answer E Explanation	[[AnswerEExp::Incorrect 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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