Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and iPTH. In the patients, eighteen base substitutions were identified in the soluble adenylate cyclase gene.
Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY
タイトル
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.
