Article
Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatric nephrology (Berlin, Germany) - 1 Jun 2017
Besouw Martine T P, Bienias Marc, Walsh Patrick, Kleta Robert, Van't Hoff William G, Ashton Emma, Jenkins Lucy, Bockenhauer Detlef
Abstract excerpt
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H+-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali...
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