Distal Primary Acidosis, Familial (DRTA)

Distal Primary Acidosis, Familial, also known as distal renal tubular acidosis, is related to renal tubular acidosis, distal, 4, with hemolytic anemia and autosomal recessive distal renal tubular acidosis. An important gene associated with Distal Primary Acidosis, Familial is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are hypokalemia and reduced bone mineral density