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Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1 , encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4 , encoding for the B1 and a4 subunits of the vH + ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron.

New Findings on the Pathogenesis of Distal Renal Tubular Acidosis