Department of Diabetes, Endocrinology and Metabolism/Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Gifu University Graduate School of Medicine, Gifu, 501-1194, Japan.
Department of Clinical Nutrition, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-Cho, Toyoake, Aichi, 470-1192, Japan.
BMC Endocr Disord. 2022 Jun 22;22(1):164. doi: 10.1186/s12902-022-01077-5.
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.
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).
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.
家族性低钙血症性高钙血症（FHH）是一种罕见的常染色体显性遗传病，需要与相对常见的原发性甲状旁腺功能亢进症（PHPT）进行鉴别诊断，以避免不必要的手术。
一名 16 岁女性一直在我院心身医学科就诊。在整个随访期间，她的血浆钙水平升高，血浆 Pi 水平相对较低，血浆完整 PTH 水平相对较高。她被转至我院以确定其高钙血症的原因。她的 24 小时尿钙排泄量低至 100mg/天，钙肌酐清除率比值低于 0.01。此外，她有高钙血症家族史（先证者、她的哥哥和父亲）。对其家族的基因检测显示，她、她的哥哥和父亲均因钙敏感受体杂合突变（NM_00388:4:c.164C>T:p.Pro55Leu）明确诊断为 FHH 1 型。
我们诊治了一名 16 岁女性 FHH 患者，基因检测确定钙敏感受体杂合突变（NM_00388:4:c.164C>T:p.Pro55Leu）为致病性突变，明确诊断为 FHH 1 型。钙敏感受体的基因检测有助于将无症状原发性甲状旁腺功能亢进症与 FHH 区分开来。
