Panel A shows the clinical and biochemical findings at presentation in three
unrelated probands with familial hypocalciuric hypercalcemia who had
heterozygous adaptor-related protein complex 2 (AP2), sigma 1 subunit
(AP2S1) mutations resulting in Arg15Cys, Arg15His, or
Arg15Leu substitutions in the AP2-sigma mutant proteins. Reference ranges are
from Nesbit et al.2 Panel B shows the
effect of cinacalcet on serum concentrations of calcium, phosphate, and
parathyroid hormone in the three probands. Vertical dashed lines indicate
initiation of cinacalcet (CIN) therapy, pamidronate (PMD) infusion, or
parathyroidectomy (PTX). Shaded gray areas indicate reference ranges.