TY - JOUR
T1 - A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation
AU - Sumida, Akira
AU - Iizuka, Katsumi
AU - Kato, Takehiro
AU - Liu, Yanyan
AU - Kubota, Sodai
AU - Kubota-Okamoto, Saki
AU - Sakurai, Teruaki
AU - Imaizumi, Toshinori
AU - Takahashi, Yoshihiro
AU - Mizuno, Masami
AU - Takao, Ken
AU - Hirota, Takuo
AU - Suwa, Tetsuya
AU - Horikawa, Yukio
AU - Yamamoto, Mayumi
AU - Seino, Yusuke
AU - Suzuki, Atsushi
AU - Yabe, Daisuke
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
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U2 - 10.1186/s12902-022-01077-5
DO - 10.1186/s12902-022-01077-5
M3 - Article
C2 - 35733207
AN - SCOPUS:85132597995
SN - 1472-6823
VL - 22
JO - BMC Endocrine Disorders
JF - BMC Endocrine Disorders
IS - 1
M1 - 164
ER -