Monday, September 23, 2013
A 20 year old presents with severe cramps in the arms and legs, fatigue, polyuria, and nocturia. His past medical history is notable only for chondrocalcinosis. He takes no medications. He smokes occasionally. His review of systems is all negative. Blood pressure is 110/70, heart rate 65, respiratory rate 12, saturation 100%. Labs show hypokalemia and hypomagnesemia. As this is surprising, you do further investigation and find hypocalciuria and metabolic alkalosis.
Challenge: What's this autosomal recessive disease?
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