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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
21 Symptoms, signs or clinical findings, not elsewhere classified
Symptoms, signs or clinical findings of the genitourinary system
Clinical findings on examination of urine, without diagnosis
MF98 Abnormal levels of serum electrolytes in the urine
H02340 Absorptive hypercalciuria
Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY
Title
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.
