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(Created page with "{{WBRQuestion |QuestionAuthor=William J Gibson |ExamType=USMLE Step 1 |MainCategory=Genetics, Pathophysiology |SubCategory=Head and Neck, Renal |MainCategory=Genetics, Pathoph...") |
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|MainCategory=Genetics, Pathophysiology | |MainCategory=Genetics, Pathophysiology | ||
|SubCategory=Head and Neck, Renal | |SubCategory=Head and Neck, Renal | ||
|MainCategory=Genetics, Pathophysiology | |||
|MainCategory=Genetics, Pathophysiology | |MainCategory=Genetics, Pathophysiology | ||
|MainCategory=Genetics, Pathophysiology | |MainCategory=Genetics, Pathophysiology | ||
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|SubCategory=Head and Neck, Renal | |SubCategory=Head and Neck, Renal | ||
|Prompt=A 26 year old man presents to his primary care physician with progressive deafness. Family history is significant for a maternal uncle who suffered a similar condition. On ophthalmic exam, the physician notes bulging of the patient’s lens capsule. The clinician orders sequencing of the Type IV Collagen Genes, which demonstrates a frameshift mutation in COL4A5. Which of the following tests should the clinician also order? | |Prompt=A 26 year old man presents to his primary care physician with progressive deafness. Family history is significant for a maternal uncle who suffered a similar condition. On ophthalmic exam, the physician notes bulging of the patient’s lens capsule. The clinician orders sequencing of the Type IV Collagen Genes, which demonstrates a frameshift mutation in COL4A5. Which of the following tests should the clinician also order? | ||
|Explanation=Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. Kidney function should be assessed and tracked in a patient with Alport syndrome. Serum creatinine is a measure of kidney function. Alport syndrome is inherited in a variety of ways depending on which gene has been mutated. The most common inheritance is X-linked recessive. | |Explanation=Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. Kidney function should be assessed and tracked in a patient with Alport syndrome. Serum creatinine is a measure of kidney function. Alport syndrome is inherited in a variety of ways depending on which gene has been mutated. The most common inheritance is X-linked recessive. | ||
|AnswerA=Serum Creatinine | |AnswerA=Serum Creatinine | ||
|AnswerAExp= | |AnswerAExp=Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. | ||
|AnswerB=Electrocardiogram | |AnswerB=Electrocardiogram | ||
|AnswerBExp= | |AnswerBExp=Alport syndrome is not associated with cardiovascular complications | ||
|AnswerC=Head MRI | |AnswerC=Head MRI | ||
|AnswerCExp= | |AnswerCExp=Alport syndrome is not associated with macroscopic structural disturbances or soft tissue tumors of the head. | ||
|AnswerD=Liver Enzymes (ALT, AST) | |AnswerD=Liver Enzymes (ALT, AST) | ||
|AnswerDExp= | |AnswerDExp=Alport syndrome is not associated with liver abnormalities. | ||
|AnswerE=Complete blood count | |AnswerE=Complete blood count | ||
|AnswerEExp= | |AnswerEExp=Alport syndrome is not associated with hematologic disturbances. | ||
|EducationalObjectives=Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. | |||
|References=First Aid 2014 page 538 | |||
|RightAnswer=A | |RightAnswer=A | ||
|WBRKeyword=Alport syndrome, Alport, Nephritis, Deafness, Hearing loss, Genetics, | |||
|Approved=Yes | |Approved=Yes | ||
}} | }} | ||
Revision as of 02:15, 11 September 2014
| Author | PageAuthor::William J Gibson |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics, MainCategory::Pathophysiology |
| Sub Category | SubCategory::Head and Neck, SubCategory::Renal |
| Prompt | [[Prompt::A 26 year old man presents to his primary care physician with progressive deafness. Family history is significant for a maternal uncle who suffered a similar condition. On ophthalmic exam, the physician notes bulging of the patient’s lens capsule. The clinician orders sequencing of the Type IV Collagen Genes, which demonstrates a frameshift mutation in COL4A5. Which of the following tests should the clinician also order?]] |
| Answer A | AnswerA::Serum Creatinine |
| Answer A Explanation | AnswerAExp::Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. |
| Answer B | AnswerB::Electrocardiogram |
| Answer B Explanation | AnswerBExp::Alport syndrome is not associated with cardiovascular complications |
| Answer C | AnswerC::Head MRI |
| Answer C Explanation | AnswerCExp::Alport syndrome is not associated with macroscopic structural disturbances or soft tissue tumors of the head. |
| Answer D | AnswerD::Liver Enzymes (ALT, AST) |
| Answer D Explanation | AnswerDExp::Alport syndrome is not associated with liver abnormalities. |
| Answer E | AnswerE::Complete blood count |
| Answer E Explanation | AnswerEExp::Alport syndrome is not associated with hematologic disturbances. |
| Right Answer | RightAnswer::A |
| Explanation | [[Explanation::Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. Kidney function should be assessed and tracked in a patient with Alport syndrome. Serum creatinine is a measure of kidney function. Alport syndrome is inherited in a variety of ways depending on which gene has been mutated. The most common inheritance is X-linked recessive. Educational Objective: Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Alport syndrome, WBRKeyword::Alport, WBRKeyword::Nephritis, WBRKeyword::Deafness, WBRKeyword::Hearing loss, WBRKeyword::Genetics |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |