Lozanov B, Mendizov I, Dzherov D, Chavrakov G, Sarafova A
Vutr Boles. 1989;28(1):97-100.
A case is presented of a woman with primary hyperparathyroidism due to a parathyroid adenoma with deep mediastinal localization successfully treated surgically. The disease was manifested at the beginning with joint pains only, followed by extreme bone, renal and metabolic disorders endangering the life of the patient. The unusually severe sceleton decalcification is linked with the functional exhaustion of the calcitonin C producing cells. The changes in these cells in the resected thyroid tissue were discrepant with the hypercalciemia. A special feature of the case is the combination of parathyroid adenoma with a number of dysmorphic signs, with a persistent thymus and beta-thalassemia (heterozygotic form) with familial predisposition--thalassemia of the mother and malformations of the patient's child. On this basis the authors presume a genetic determination of the basic disease similar to other forms of primary hyperparathyroidism.
本文介绍了一例因甲状旁腺腺瘤导致原发性甲状旁腺功能亢进的女性病例，该腺瘤位于纵隔深部，经手术成功治疗。疾病初期仅表现为关节疼痛，随后出现严重的骨骼、肾脏和代谢紊乱，危及患者生命。异常严重的骨骼脱钙与产生降钙素C的细胞功能衰竭有关。切除的甲状腺组织中这些细胞的变化与高钙血症不一致。该病例的一个特殊特征是甲状旁腺腺瘤与一些畸形体征、持续存在的胸腺以及β地中海贫血（杂合子形式）合并家族易感性——母亲患地中海贫血且患者孩子有畸形。基于此，作者推测该基础疾病与其他形式的原发性甲状旁腺功能亢进类似，存在遗传决定因素。
