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

BMC Endocrine Disorders

Akira Sumida¹  Ken Takao¹  Tetsuya Suwa¹  Teruaki Sakurai¹  Masami Mizuno¹  Sodai Kubota¹  Saki Kubota-Okamoto¹  Katsumi Iizuka¹  Toshinori Imaizumi¹  Yukio Horikawa¹  Takehiro Kato¹  Yoshihiro Takahashi¹  Yanyan Liu¹  Takuo Hirota¹  Daisuke Yabe¹  Mayumi Yamamoto²  Atsushi Suzuki³  Yusuke Seino³ 

[1] Department of Diabetes, Endocrinology and Metabolism/Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Gifu University Graduate School of Medicine;Health Administration Center, Gifu University;The Department of Endocrinology, Diabetes and Metabolism, Fujita Health University;

关键词: Familial hypocalciuric hypercalcemia;    FHH;    Valcium creatinine clearance ratio;    CCCR;    Calcium-sensing receptor;    CASR;   

DOI  :  10.1186/s12902-022-01077-5

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown