Forde Hannah Elizabeth, Hill Arnold D, Smith Diarmuid
Department of Endocrinology, Beaumont Hospital, Dublin, Ireland.
Department of Surgery, Beaumont/RCSI, Dublin 9, Ireland.
BMJ Case Rep. 2014 Oct 15;2014:bcr2014206473. doi: 10.1136/bcr-2014-206473.
A 57-year-old man with symptoms of fatigue, joint pains and insomnia was found to have hypercalcaemia secondary to hyperparathyroidism with a corrected calcium of 2.61 mmol/L (2.2-2.6 mmol/L) and a serum parathyroid hormone (PTH) of 86 pg/mL (10-65 pg/mL). Preoperative workup demonstrated a parathyroid adenoma in the right upper position and he proceeded to surgery. Postoperatively, however, his symptoms remained unchanged and the corrected calcium remained elevated at 2.87 mmol/L with a PTH of 59 pg/mL. He had no family history of hypercalcaemia. Further investigations revealed low 24 h urinary calcium level and a low urine calcium to creatinine ratio. Genetic testing revealed a mutation in exon 4 of the calcium sensing receptor (CaSR) confirming a diagnosis of familial hypocalciuric hyercalcaemia (FHH). The case is an example of a rare phenomenon when a parathyroid adenoma develops in patients with FHH.
一名57岁男性，有疲劳、关节疼痛和失眠症状，检查发现继发于甲状旁腺功能亢进的高钙血症，校正钙为2.61 mmol/L（2.2 - 2.6 mmol/L），血清甲状旁腺激素（PTH）为86 pg/mL（10 - 65 pg/mL）。术前检查显示右上位置有一个甲状旁腺腺瘤，随后他接受了手术。然而，术后他的症状没有改变，校正钙仍升高至2.87 mmol/L，PTH为59 pg/mL。他没有高钙血症家族史。进一步检查发现24小时尿钙水平低，尿钙与肌酐比值低。基因检测显示钙敏感受体（CaSR）第4外显子有突变，确诊为家族性低尿钙性高钙血症（FHH）。该病例是FHH患者发生甲状旁腺腺瘤这一罕见现象的一个例子。
