Stanhope Surgery, Stanhope Road, Waltham Cross, EN8 7DJ, UK.
School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.
Rev Endocr Metab Disord. 2020 Mar;21(1):77-88. doi: 10.1007/s11154-019-09529-5.
There are many causes of hypercalcaemia including hyperparathyroidism, drugs, granulomatous disorders and malignancy. Parathyroid hormone (PTH) related hypercalcaemia is most commonly caused by primary hyperparathyroidism (PHPT) and more rarely by familial hypocalciuric hypercalcaemia (FHH). Algorithms for diagnosis of PTH related hypercalcaemia require assessment of a 24-h urinary calcium and creatinine excretion to calculate calcium/creatinine clearance ratio and radiological investigations including ultrasound scan and Tc-sestamibi-SPECT/CT. To illustrate investigations and management of parathyroid-related hypercalcaemia, we present a selection of distinct cases of PHPT due to eutopic and ectopic parathyroid adenomas, as well as a case with a syndromic form of PHPT (multiple endocrine neoplasia type 1), and a case with FHH type 1 due to a CASR inactivating mutation. Additional cases with normocalcaemic hyperparathyroidism and secondary hyperparathyroidism are included for completeness of differential diagnosis. The common eutopic parathyroid adenomas are easily treated with parathyroidectomy while the less common ectopic parathyroid adenomas require more complex investigations and operative procedures such as video-assisted thoracoscopic surgery. On the other hand, the much less common FHH does not require treatment. Assessment of kin with FHH is important to identify members with this inherited condition in order to prevent unnecessary interventions.
高钙血症有许多原因，包括甲状旁腺功能亢进、药物、肉芽肿性疾病和恶性肿瘤。甲状旁腺激素（PTH）相关高钙血症最常见于原发性甲状旁腺功能亢进症（PHPT），较少见于家族性低钙血症性高钙血症（FHH）。PTH 相关高钙血症的诊断算法需要评估 24 小时尿钙和肌酐排泄，以计算钙/肌酐清除率比值，并进行影像学检查，包括超声扫描和 Tc-sestamibi-SPECT/CT。为了说明甲状旁腺相关高钙血症的检查和管理，我们选择了一些不同的 PHPT 病例，包括由于异位和异位甲状旁腺腺瘤引起的病例，以及一例综合征形式的 PHPT（多发性内分泌肿瘤 1 型），以及一例由于 CASR 失活突变引起的 FHH 1 型病例。为了完整的鉴别诊断，还包括了一些伴有正常血钙的甲状旁腺功能亢进症和继发性甲状旁腺功能亢进症的病例。常见的异位甲状旁腺腺瘤很容易通过甲状旁腺切除术治疗，而不太常见的异位甲状旁腺腺瘤则需要更复杂的检查和手术程序，如胸腔镜手术。另一方面，较少见的 FHH 不需要治疗。评估 FHH 的亲属对于识别患有这种遗传性疾病的成员非常重要，以避免不必要的干预。
