renal tubular acidosis, distal, autosomal dominant

(redirected from renal tubular acidosis I)

renal tubular acidosis, distal, autosomal dominant

An autosomal dominant condition (OMIM:179800) characterised by a reduced ability to acidify urine, resulting in variable hyperchloremic hypokalaemic metabolic acidosis, nephrocalcinosis and nephrolithiasis.

Molecular pathology
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.
References in periodicals archive ?
Distal renal tubular acidosis is a disease of tubular dysfunction with impaired urine [H.