WBR0116: Difference between revisions
Jump to navigation
Jump to search
Rim Halaby (talk | contribs) No edit summary |
Rim Halaby (talk | contribs) No edit summary |
||
| Line 21: | Line 21: | ||
|SubCategory=Gastrointestinal | |SubCategory=Gastrointestinal | ||
|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? | |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. Celiac disease is an [[autoimmune disease]] of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include pain and discomfort in the digestive tract, chronic [[diarrhea]], [[failure to thrive]] (in children), [[anemia]] and fatigue, but these may be absent, and symptoms in other organ systems have been described. [[Celiac disease]] is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. | |Explanation=This patient suffers from [[celiac disease]] or gluten-sensitive enteropathy. Celiac disease is an [[autoimmune disease]] of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include pain and discomfort in the digestive tract, chronic [[diarrhea]], [[failure to thrive]] (in children), [[anemia]] and fatigue, but these may be absent, and symptoms in other organ systems have been described. [[Celiac disease]] is genetically predisposed by [[HLA-DQ2]] or [[HLA-DQ8]] HLA subtypes. | ||
|AnswerA=HLA DQ2 gene | |AnswerA=HLA DQ2 gene | ||
|AnswerAExp=This patient suffers from [[celiac disease]] or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations | |AnswerAExp=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=IBD1 encodes an intracellular pattern recognition receptor (NOD2). IBD1 mutations are associated with inflammatory bowel diseases. | |AnswerBExp=IBD1 encodes an intracellular pattern recognition receptor (NOD2). IBD1 mutations are associated with inflammatory bowel diseases. | ||
| Line 32: | Line 32: | ||
|AnswerE=MSH2 gene | |AnswerE=MSH2 gene | ||
|AnswerEExp=MSH2 gene mutation is associated with [[Hereditary nonpolyposis colorectal cancer]]. | |AnswerEExp=MSH2 gene mutation is associated with [[Hereditary nonpolyposis colorectal cancer]]. | ||
|EducationalObjectives=Celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. | |EducationalObjectives=Celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by [[HLA-DQ2]] or [[HLA-DQ8]] HLA subtypes. | ||
|References=First Aid 2014 page 199 | |References=First Aid 2014 page 199 | ||
|RightAnswer=A | |RightAnswer=A | ||
Revision as of 01:42, 21 May 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 encodes an intracellular pattern recognition receptor (NOD2). IBD1 mutations are 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::MSH2 gene |
| Answer E Explanation | [[AnswerEExp::MSH2 gene mutation is associated with Hereditary nonpolyposis colorectal cancer.]] |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::This patient suffers from celiac disease or gluten-sensitive enteropathy. Celiac disease is an autoimmune disease of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include pain and discomfort in the digestive tract, chronic diarrhea, failure to thrive (in children), anemia and fatigue, but these may be absent, and symptoms in other organ systems have been described. Celiac disease is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. Educational Objective: Celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA-DQ2 or HLA-DQ8 HLA subtypes. |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Celiac disease; HLA-DQ2; HLA-DQ8; HLA; diarrhea; chronic diarrhea |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |