Hereditary distal renal tubular acidosis with chronic granulomatous disease: a rare coincidence.

Abstract excerpt

The primary defect in distal renal tubular acidosis (dRTA) is impaired H+ ion secretion in the distal nephron, resulting in a normal anion gap metabolic acidosis. The solute carrier family 4-member 1 (SLC4A1) gene encodes the erythroid and renal anion exchanger 1 (AE1) protein for chloride-bicarbonate exchange. Mutations in the gene can result in hereditary dRTA, red blood cell membrane defect, and hemolytic...

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