Bartter syndrome type 1
Bartter syndrome type 1A form (OMIM:601678) of Bartter syndrome, a group of autosomal recessive disorders characterised by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalaemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked foetal polyuria leading to polyhydramnios and premature delivery, accompanied by marked hypercalciuria leading to nephrocalcinosis and osteopenia.
Defects of SLC12A1, which encodes a kidney-specific sodium-potassium-chloride co-transporter that plays a key role in regulating ionic balance cell volume and concentrating urine, are a cause of Bartter syndrome type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.