0 ADPKD / Marfan's ?

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Q1. A 30 year old male of normal stature presents with the “worst headache of his life”, and a 3 month history of hematuria and flank pain. A CT reveals a ruptured berry aneurysm. He has a history of hypertension, a mid systolic click followed by a murmur starting in the left 5th intercostal space at the midclavicular line and radiating into the left axilla, and intermittent hematuria with flank pain. His BUN is 80 mg/dL (normal 7-18 mg/dL) and his serum creatinine is 8mg/dL (normal 0.6-1.2 mg/dL). Previous CTs of the thorax, abdomen, and pelvis reveal no abnormalities. What would you most likely find on physical exam?

A - Laterally displaced PMI
B - Bilateral abdominal masses
C - Positive Rovsig’s sign
D- hyperextensible joints

Q2. A 30 year old male of abnormally tall stature presents with the “worst headache of his life”, and a 3 month history of hematuria and flank pain. A CT reveals a ruptured berry aneurysm. He has a history of hypertension, a mid systolic click followed by a murmur starting in the left 5th intercostal space at the midclavicular line and radiating into the left axilla, and intermittent hematuria with flank pain. His BUN is 80 mg/dL (normal 7-18 mg/dL) and his serum creatinine is 8mg/dL (normal 0.6-1.2 mg/dL). Previous CTs of the thorax, abdomen, and pelvis reveal no abnormalities. What would you most likely find on physical exam?

A - Laterally displaced PMI
B - Bilateral abdominal masses
C - Positive Rovsig’s sign
D-hyperextensible joints



ANSWER:
1. B
This is a classic case of polycystic kidney disease which commonly presents with bilateral abdominal masses (very large kidneys) on palpitation, flank pain, hematuria, hypertension, and progressive renal failure. The berry aneurysm and midsystolic click and murmur caused by mitral valve prolapse are also associated with polycystic kidney disease. APKD1 and APKD2 are the genes involved. This disease is mostly autosomal dominant so look for a family history.
2. D
this is a case of marfan's syndrome.the tall stature is a characteristic feature.the berry aneurysm can be explained by the fact that cystic medial degeneration leading to aneurysms is a common feature here.the murmur described is characteristic of mitral valve prolapse,which is common in marfan's.the presence of renal abnormalities have been recently demonstrated in marfan's , the most common is polycystic kidney.

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