WBR0219
| 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::'''Correct''' – Alport syndrome is a familial cause of deafness, ocular disturbances and nephritis. |
| Answer B | AnswerB::Electrocardiogram |
| Answer B Explanation | AnswerBExp::'''Incorrect''' – Alport syndrome is not associated with cardiovascular complications |
| Answer C | AnswerC::Head MRI |
| Answer C Explanation | AnswerCExp::'''Incorrect''' – 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::'''Incorrect''' – Alport syndrome is not associated with liver abnormalities. |
| Answer E | AnswerE::Complete blood count |
| Answer E Explanation | AnswerEExp::'''Incorrect''' – 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 2012 page 84. |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |