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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Sumida, Akira Iizuka, Katsumi Kato, Takehiro Liu, Yanyan Kubota, Sodai Kubota-Okamoto, Saki Sakurai, Teruaki Imaizumi, Toshinori Takahashi, Yoshihiro Mizuno, Masami Takao, Ken Hirota, Takuo Suwa, Tetsuya Horikawa, Yukio Yamamoto, Mayumi Seino, Yusuke Suzuki, Atsushi Yabe, Daisuke |
| 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. |
| Related Links | https://bmcendocrdisord.biomedcentral.com/counter/pdf/10.1186/s12902-022-01077-5.pdf |
| Ending Page | 5 |
| Page Count | 5 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14726823 |
| DOI | 10.1186/s12902-022-01077-5 |
| Journal | BMC Endocrine Disorders |
| Issue Number | 1 |
| Volume Number | 22 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2022-06-22 |
| Access Restriction | Open |
| Subject Keyword | Endocrinology Metabolic Diseases Diabetes Andrology CASR Familial hypocalciuric hypercalcemia FHH Valcium creatinine clearance ratio CCCR Calcium-sensing receptor |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Endocrinology, Diabetes and Metabolism |
| Journal Impact Factor | 2.8/2023 |
| 5-Year Journal Impact Factor | 3.1/2023 |
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