renal tubular acidosis, distal, with normal red cell morphology

renal tubular acidosis, distal, with normal red cell morphology

An autosomal recessive condition (OMIM:611590) characterised by 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.