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Abstract <p>Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder of calcium regulation. FHH type 3 (FHH3), caused by pathogenic variants in <i>AP2S1</i>, may present with clinically significant complications. Data on the treatment of this rare disorder is limited.</p> Case description <p>We report an 11-year-old girl with a de novo heterozygous pathogenic variant in <i>AP2S1</i> (NM_004069.6): c.44G&gt;T p.(Arg15Leu). At the age of seven, our patient presented with hypercalcemia, hypocalciuria, and elevated parathyroid hormone (PTH), which were accompanied by low bone mineral density and persistent neurodevelopmental difficulties. Primary hyperparathyroidism and causative variants in the <i>CASR</i> gene were excluded, and cinacalcet was initiated. After a dose titration and vitamin D<sub>3</sub> dose adjustments, a normalization of serum calcium and PTH was achieved, and symptoms improved substantially, although lumbar bone mineral density declined further, and neurological symptoms remained.</p> Conclusions <p>This case demonstrates cinacalcet as an effective and well-tolerated therapy in FHH3, with unresolved questions regarding skeletal and neurocognitive outcomes.</p>

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Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3

  • 期刊论文

  • 发表日期：

    2026年1月7日

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  • Marcin Kołbuc,
  • Bodo B. Beck,
  • Ewelina Bukowska-Olech,
  • Aleksander Jamsheer,
  • Marcin Zaniew

摘要

Abstract

Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder of calcium regulation. FHH type 3 (FHH3), caused by pathogenic variants in AP2S1, may present with clinically significant complications. Data on the treatment of this rare disorder is limited.

Case description

We report an 11-year-old girl with a de novo heterozygous pathogenic variant in AP2S1 (NM_004069.6): c.44G>T p.(Arg15Leu). At the age of seven, our patient presented with hypercalcemia, hypocalciuria, and elevated parathyroid hormone (PTH), which were accompanied by low bone mineral density and persistent neurodevelopmental difficulties. Primary hyperparathyroidism and causative variants in the CASR gene were excluded, and cinacalcet was initiated. After a dose titration and vitamin D3 dose adjustments, a normalization of serum calcium and PTH was achieved, and symptoms improved substantially, although lumbar bone mineral density declined further, and neurological symptoms remained.

Conclusions

This case demonstrates cinacalcet as an effective and well-tolerated therapy in FHH3, with unresolved questions regarding skeletal and neurocognitive outcomes.