| Title: |
Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu). |
| Authors: |
Chida, Ai, Hasegawa, Yutaka, Segawa, Toshie, Yamabe, Daisuke, Yan, Hirotaka, Chiba, Yusuke, Chiba, Hiraku, Kinno, Hirofumi, Oda, Tomoyasu, Takahashi, Yoshihiko, Nata, Koji, Ishigaki, Yasushi, Kita, Toshihiro |
| Source: |
Case Reports in Endocrinology; 1/22/2025, Vol. 2025, p1-6, 6p |
| 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. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |
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