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?
Image shown under Creative Commons Attribution Share-Alike License.
Posts
4 comments:
Barter's syndrome
Cell Biology
This is Gitelman syndrome, also called tubular hypomagnesemia-hypokalemia with hypocalciuria, an autosomal recessive disorder. The defect is in a sodium chloride transporter in the distal tubule, mimicking a thiazide diuretic. There is mild volume depletion and activation of the renin-angiotensin-aldosterone system and resultant hypokalemia and metabolic alkalosis.
Sources: UpToDate; Wikipedia.
also - Bartter's and Gitelman's are always taught together - this was intended to be a Gitelman's (and reflect a pseudo-thiazide diuretic) rather than a Bartter's (which I believe mimics furosemide).
i always mix the two up!
damn it!
Post a Comment