Tuli Gerdi, Munarin Jessica, Tessaris Daniele, Buganza Raffaele, Matarazzo Patrizia, De Sanctis Luisa
Department of Pediatric Endocrinology, Regina Margherita Children's Hospital of Turin, Turin, Italy.
Department of Sciences of Public Health and Pediatrics, University of Turin, Turin, Italy.
Case Rep Endocrinol. 2021 Apr 13;2021:5539349. doi: 10.1155/2021/5539349. eCollection 2021.
Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. Herein, we report two cases of PHPT in pediatric age with different presenting symptoms, pain in the foot, and progressive alteration of the gait in the first case and recurrent abdominal pain with emotional lability in the second. Biochemical and radiological assessment confirmed PHPT. Both cases were treated surgically as definitive treatment, but in the second case, previous medical treatment with cinacalcet, a calcimimetic agent, was required to reduce serum PTH and calcium levels. After surgery, despite conventional treatment with calcium and calcitriol, case 1 developed a hungry bone syndrome. The analysis of the MEN-1 (Multiple Endocrine Neoplasia) gene was negative in both cases. A diagnosis of PHPT should be considered when children or adolescents present bone pain with radiological imaging of osteolytic lesion and biochemical feature of hypercalcemia associated with hypophosphatemia. In PHPT, the gold standard treatment is represented by surgery followed by strict postoperative endocrine monitoring to maintain adequate homeostasis of calcium and bone metabolism.
原发性甲状旁腺功能亢进症（PHPT）在儿童和青少年中是一种罕见的疾病。典型的生化特征是高钙血症和低磷血症，但临床特征可能多种多样，在某些情况下，症状模糊且不具特异性，导致误诊或诊断延迟。在此，我们报告两例儿童期PHPT病例，其表现症状不同，第一例为足部疼痛和步态逐渐改变，第二例为反复腹痛伴情绪不稳定。生化和放射学评估确诊为PHPT。两例均接受手术作为确定性治疗，但在第二例中，之前需要使用拟钙剂西那卡塞进行药物治疗以降低血清甲状旁腺激素（PTH）和钙水平。术后，尽管给予钙和骨化三醇常规治疗，病例1仍出现了饥饿骨综合征。两例患者的多发性内分泌肿瘤1型（MEN - 1）基因分析均为阴性。当儿童或青少年出现骨痛且伴有溶骨性病变的放射学影像以及与低磷血症相关的高钙血症生化特征时，应考虑PHPT的诊断。在PHPT中，金标准治疗是以手术为主，术后进行严格的内分泌监测以维持钙和骨代谢的适当内环境稳定。
