Bone Abstracts

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition with an estimated prevalence of 1 in 78,000. The commonest cause of FHH is inactivating mutations of the calcium-sensing receptor (CASR) gene, with the rest mostly caused by missense mutations of the GNA11 and AP2S1 genes. FHH is characterized by persistent mild-to-moderate hypercalcemia, hypocalciuria with calcium-creatinine clearance ratio ⩽0.01. The disease runs a benign cou...