A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation

Akira Sumida, Katsumi Iizuka, Takehiro Kato, Yanyan Liu, Sodai Kubota, Saki Kubota-Okamoto, Teruaki Sakurai, Toshinori Imaizumi, Yoshihiro Takahashi, Masami Mizuno, Ken Takao, Takuo Hirota, Tetsuya Suwa, Yukio Horikawa, Mayumi Yamamoto, Yusuke Seino, Atsushi Suzuki, Daisuke Yabe

研究成果: ジャーナルへの寄稿学術論文査読


Background: Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease, which requires differential diagnosis from relatively common primary hyperparathyroidism (PHPT) in order to avoid unnecessary surgery. Case presentation: A 16-year-old female had been followed by the department of psychosomatic medicine at our institution. Throughout the follow-up period, her plasma calcium levels were high, plasma Pi levels were relatively low, and plasma intact PTH was relatively high. She was referred to our department to determine the cause of her hypercalcemia. Her 24 h urinary calcium excretion was as low as 100 mg/day, and calcium creatinine clearance ratio was below 0.01. Moreover, she had a family history of hypercalcemia (proband, her brother, and her father). The genetic testing for her family revealed that she, her brother, and her father were definitively diagnosed with FHH type 1 due to the heterozygous calcium-sensing receptor mutation (NM_00388:4:c.164C > T:p.Pro55Leu). Conclusion: We experienced a 16-year-old female with FHH, in whom genetic testing identified the heterozygous calcium-sensing receptor mutation (NM_00388:4:c.164C > T:p.Pro55Leu) as pathogenic, permitting a definitive diagnosis of FHH type 1. The genetic testing for calcium sensing receptor is beneficial to distinguish asymptomatic primary hyperparathyroidism from FHH.

ジャーナルBMC Endocrine Disorders
出版ステータス出版済み - 12-2022

All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学


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