renal tubular acidosis, distal, with haemolytic anaemia

renal tubular acidosis, distal, with haemolytic anaemia

An autosomal recessive condition (OMIM:611590) characterised by the association of haemolytic anaemia with distal renal tubular acidosis, as well as the 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.