WBR0104
| Author | PageAuthor::William J Gibson |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Renal |
| Prompt | [[Prompt::A 40 year old woman with a history of recurrent urinary tract infections presents to her primary care physician with the gradual onset of increasing fatigue, swelling in her feet and anorexia. She reports flank pain, and a recent decrease in urine volume. Her pulse is 76, blood pressure is 145/110 and she has a respiratory rate of 16. Physical exam is remarkable for bilateral solid masses that can be palpated during abdominal examination. Tapping the lower back elicits sharp pain. Laboratory studies are significant a creatinine of 2.3, and BUN of 20. Which of the following is most likely true regarding the patient’s condition?]] |
| Answer A | AnswerA::Caused by a defect in a calcium channel gene |
| Answer A Explanation | AnswerAExp::Incorrect - this is the cause of ADPKD2 which has a later onset and is rarer than ADPKD1 mutations. |
| Answer B | AnswerB::Caused by a defect in the assembly of the cilium |
| Answer B Explanation | AnswerBExp::Correct - The patient's form of ADPKD caused by ADPKD1 mutations. ADPKD1 is thought to encode a cellular membrane protein involved in assembly of the cilium. |
| Answer C | AnswerC::Caused by autoantibodies against glomerular basement membrane |
| Answer C Explanation | AnswerCExp::Incorrect - this describes Goodpasture's disease which would not cause renal masses. |
| Answer D | AnswerD::Is transmitted in an autosomal recessive fashion |
| Answer D Explanation | AnswerDExp::Incorrect - ADPKD is a DOMINANT disease |
| Answer E | AnswerE::Is associated with abdominal aortic aneurysms |
| Answer E Explanation | AnswerEExp::Incorrect - ADPKD is associated with berry aneurysms. |
| Right Answer | RightAnswer::B |
| Explanation | [[Explanation::The patient's form of ADPKD caused by ADPKD1 mutations. ADPKD1 is thought to encode a cellular membrane protein involved in assembly of the cilium. Educational Objective: |
| Approved | Approved::No |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |