Htoo Sheryl T Y, Cusano Natalie E
Division of Endocrinology, Department of Medicine, Zucker School of Medicine at Hofstra/Northwell, New York, New York.
Division of Endocrinology, Department of Medicine, Zucker School of Medicine at Hofstra/Northwell, New York, New York.
Endocr Pract. 2025 Nov;31(11):1488-1494. doi: 10.1016/j.eprac.2025.07.009. Epub 2025 Jul 17.
Primary hyperparathyroidism (PHPT) is a frequently diagnosed endocrine condition most commonly caused by a single parathyroid adenoma. Our understanding of the epidemiology and management of PHPT have evolved in the past few decades. Asymptomatic PHPT has been the most common presentation in developed countries since the advent of routine biochemical screening. Symptomatic disease is now also decreasing in developing nations. Normocalcemic PHPT is a newer phenotype that can be diagnosed in the setting of elevated parathyroid hormone concentrations with persistently normal serum calcium; however, evaluation for secondary causes of hyperparathyroidism is critical as it is a diagnosis of exclusion. Genetic testing can be helpful in patients younger than 30 years of age and/or patients with intermediate or equivocal ranges of the urinary calcium to creatinine ratio (between 0.01 and 0.02) to differentiate PHPT from familial hypocalciuric hypercalcemia and to evaluate for other genetic etiologies that may affect management. Surgery is the recommended treatment modality for symptomatic PHPT, and patients with asymptomatic PHPT meeting recommended criteria should also be considered for parathyroidectomy. "Asymptomatic" patients should be screened for the presence of nephrolithiasis and/or vertebral fracture, since many will be reclassified as having symptomatic disease with further investigation. For poor surgical candidates or patients not meeting criteria for surgery, medical therapy includes cinacalcet for hypercalcemia and antiresorptive therapies for osteoporosis.
原发性甲状旁腺功能亢进症(PHPT)是一种常被诊断出的内分泌疾病,最常见的病因是单个甲状旁腺腺瘤。在过去几十年里,我们对PHPT的流行病学和治疗方法的认识有了发展。自常规生化筛查出现以来,无症状性PHPT在发达国家一直是最常见的表现形式。现在,发展中国家有症状的疾病也在减少。血钙正常的PHPT是一种较新的表型,可在甲状旁腺激素浓度升高而血清钙持续正常的情况下被诊断出来;然而,由于这是一种排除性诊断,对继发性甲状旁腺功能亢进症的继发原因进行评估至关重要。基因检测对30岁以下的患者和/或尿钙与肌酐比值处于中等或不明确范围(0.01至0.02之间)的患者可能有帮助,以区分PHPT与家族性低钙血症性高钙血症,并评估可能影响治疗的其他遗传病因。手术是有症状的PHPT推荐的治疗方式,符合推荐标准的无症状性PHPT患者也应考虑进行甲状旁腺切除术。“无症状”患者应筛查是否存在肾结石和/或椎体骨折,因为许多患者经进一步检查后会被重新归类为有症状的疾病。对于手术条件较差的患者或不符合手术标准的患者,药物治疗包括使用西那卡塞治疗高钙血症和使用抗吸收疗法治疗骨质疏松症。