WBR0219

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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.
References: First Aid 2014 page 538]]

Approved Approved::Yes
Keyword WBRKeyword::Alport syndrome, WBRKeyword::Alport, WBRKeyword::Nephritis, WBRKeyword::Deafness, WBRKeyword::Hearing loss, WBRKeyword::Genetics
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Order in Linked Questions LinkedOrder::