Mallette L E, Malini S, Rappaport M P, Kirkland J L
Ann Intern Med. 1987 Jul;107(1):54-60. doi: 10.7326/0003-4819-107-1-54.
Although the commonest familial form of primary hyperparathyroidism is parathyroid hyperplasia, a few families have manifested parathyroid adenomas. We describe a family in which four members developed cystic parathyroid adenomas. Although calcium levels returned to normal after resection of the adenoma, a second adenoma would often develop several years later (we have termed this temporal sequence adenomatosis). Each adenoma had a cystic histologic appearance, and three of four normal-sized parathyroid glands also contained many cysts. No other endocrine tumors have appeared, but in three patients the hyperparathyroidism was complicated by fibrous maxillary or mandibular tumors that resembled ossifying fibromas rather than the brown tumors generally found in patients with hyperparathyroidism. Each patient with an adenoma was hypercalciuric, but two were obligate carriers of hypocalciuric hypercalcemia. This familial occurrence of the rare cystic parathyroid adenoma suggests the presence of a distinct hereditary syndrome. The genetic basis may be the simultaneous inheritance of familial hypocalciuric hypercalcemia and another trait that may increase the urinary excretion of calcium.
虽然原发性甲状旁腺功能亢进最常见的家族形式是甲状旁腺增生，但少数家族表现为甲状旁腺腺瘤。我们描述了一个家族，其中四名成员患了囊性甲状旁腺腺瘤。虽然腺瘤切除后钙水平恢复正常，但几年后通常会出现第二个腺瘤（我们将这种时间顺序称为腺瘤病）。每个腺瘤都有囊性组织学表现，四个正常大小的甲状旁腺中有三个也含有许多囊肿。未出现其他内分泌肿瘤，但三名患者的甲状旁腺功能亢进并发了纤维性上颌或下颌肿瘤，这些肿瘤类似骨化性纤维瘤，而非甲状旁腺功能亢进患者中常见的棕色瘤。每个患有腺瘤的患者都有高钙尿症，但有两名是低钙尿性高钙血症的携带者。这种罕见的囊性甲状旁腺腺瘤的家族性发生提示存在一种独特的遗传综合征。其遗传基础可能是家族性低钙尿性高钙血症与另一种可能增加尿钙排泄的性状的同时遗传。
