absorptive hypercalciuria

Epidemiology

• common

Pathology

• calcium oxalate nephrolithiasis
• intestinal hyperabsorption of Ca+2 in the presence of normal serum Ca+2 & immunoreactive PTH (iPTH)

Genetics

• type 2 associated with defects in ADCY10

Clinical manifestations

• ~50% of patients present with a family history of calcium oxalate nephrolithiasis & hypercalciuria

Laboratory

• normal serum Ca+2
• normal immunoreactive PTH (iPTH)

Radiology

• low bone mineral density (BMD), particularly of the lumbar spine

Differential diagnosis

• hyperparathyroidism
• familial hypocalciuric hypercalcemia
• idiopathic hypercalciuria

Management

• thiazide diuretics

More general terms

• hypercalciuria

Database

• OMIM: https://mirror.omim.org/entry/143870