We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperparathyroidism. Post-operative histology showed diffuse hyperplasia of all four parathyroid glands along with the presence of intrathyroidal parathyroid tissue. With regard to clinical management this case suggests that familial hypocalciuric hypercalcemia should be classified as an atypical form of primary hyperparathyroidism rather than a distinct entity.

中文翻译：

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需要广泛手术的成人发作性症状性高钙血症的杂合失活CASR变异病例。

我们描述了一个有症状的家族性低钙血症性高钙血症的成年女性患者的情况，该患者需要逐步的治疗方法以及最终需要进行全副甲状腺切除术和甲状腺切除术以治愈症状。遗传分析表明，以前仅在新生儿严重甲状旁腺功能亢进症中描述过的杂合R227L灭活CASR基因变异。术后组织学检查显示所有四个甲状旁腺均弥漫性增生，并伴有甲状腺内甲状旁腺组织。关于临床管理，该病例提示家族性低钙血症性高钙血症应归类为原发性甲状旁腺功能亢进症的一种非典型形式，而不是一个单独的实体。