renal tubular acidosis, distal, autosomal dominant(redirected from RTA, distal type, autosomal dominant)
renal tubular acidosis, distal, autosomal dominantAn autosomal dominant condition (OMIM:179800) characterised by a reduced ability to acidify urine, resulting in variable hyperchloremic hypokalaemic metabolic acidosis, nephrocalcinosis and nephrolithiasis.
Caused by defects of SLC4A1, which encodes a protein with a glycosylated C-terminal membrane-associated domain that acts as an anion exchange transporter binding carbonic anhydrase II.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.