Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu).

IF 0.9 Q4 ENDOCRINOLOGY & METABOLISM
Case Reports in Endocrinology Pub Date : 2025-01-23 eCollection Date: 2025-01-01 DOI:10.1155/crie/9514578
Ai Chida, Yutaka Hasegawa, Toshie Segawa, Daisuke Yamabe, Hirotaka Yan, Yusuke Chiba, Hiraku Chiba, Hirofumi Kinno, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki
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引用次数: 0

Abstract

Background: Familial hypocalciuric hypercalcemia type 3 (FHH3) is a rare hereditary disorder caused by a heterozygous AP2S1 gene mutation, characterized by hypocalciuria and hypercalcemia due to impaired intracellular signal transduction of calcium (Ca)-sensing receptors (CaSRs). All affected patients harbored a heterozygous missense mutation at the Arg15 residue of the encoded AP2σ1. Case Presentation: A 21-year-old female was referred to our hospital with hypercalcemia and reduced bone mineral density (BMD) detected during a preoperative examination for scoliosis surgery. She had a developmental disorder and exhibited hypocalciuria on urinalysis. Genetic testing revealed a heterozygous AP2S1 gene mutation (p.Arg15Leu), and the patient was diagnosed with FHH3. In the present case, we investigated the effects of evocalcet, a newly approved CaSR agonist. Treatment with evocalcet gradually decreased and normalized the serum Ca level, and promoted improvements in bone metabolism, without serious adverse events. Conclusion: Evocalcet may be a promising therapeutic candidate for symptomatic FHH3.

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来源期刊
Case Reports in Endocrinology
Case Reports in Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.10
自引率
0.00%
发文量
45
审稿时长
13 weeks
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