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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
General
hypercalciuria
Database Correlations
OMIM 143870
References
OMIM :accession 143870