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. Author manuscript; available in PMC: 2016 Oct 7.
Published in final edited form as: N Engl J Med. 2016 Apr 7;374(14):1396–1398. doi: 10.1056/NEJMc1511646

Figure 1. Cinacalcet for Hypercalcemia Associated with AP2S1 Mutations.

Figure 1

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.