Distal Renal Tubular Acidosis and Calcium Nephrolithiasis

摘要

Calcium stones are commonly encountered in patients with congenital distal renaltubular acidosis, a disease of renal acidification caused by mutations in either the vacuolar HATPase (B1 or a4 subunit), anion exchanger-1, or carbonic anhydrase II. Based on the existing database, we present two hypotheses. First, heterozygotes with mutations in B1 subunit of HATPase are not normal but may harbor biochemical abnormalities such as renal acidificationdefects, hypercalciuria, and hypocitraturia which can predispose them to kidney stone formation.Second, we propose at least two mechanisms by which mutant B1 subunit can impair HATPase: defective pump as sembly and activity.