J Nephrol 2017 Oct 9. Epub 2017 Oct 9.
National Center for Competence in Research NCCR Kidney.CH, Zurich, Switzerland.
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Read More