Recent data suggest an increase in the overall incidence of parathyroid disorders, with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is associated with morbidities (fractures, kidney stones, chronic kidney disease) and increased risk of death. The symptoms of PHPT can be nonspecific, potentially delaying the diagnosis. Approximately 15% of patients with PHPT have an underlying heritable form of PHPT that may be associated with extraparathyroidal manifestations, requiring active surveillance for these manifestations as seen in multiple endocrine neoplasia type 1 and 2A. Genetic testing for heritable forms should be offered to patients with multiglandular disease, recurrent PHPT, young onset PHPT (age ≤40 years), and those with a family history of parathyroid tumors. However, the underlying genetic cause for the majority of patients with heritable forms of PHPT remains unknown. Distinction between sporadic and heritable forms of PHPT is useful in surgical planning for parathyroidectomy and has implications for the family. The genes currently known to be associated with heritable forms of PHPT account for approximately half of sporadic parathyroid tumors. But the genetic cause in approximately half of the sporadic parathyroid tumors remains unknown. Furthermore, there is no systemic therapy for parathyroid carcinoma, a rare but potentially fatal cause of PHPT. Improved understanding of the molecular characteristics of parathyroid tumors will allow us to identify biomarkers for diagnosis and novel targets for therapy.

中文翻译：

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原发性甲状旁腺功能亢进症的分子和临床谱。

最近的数据表明甲状旁腺疾病的总体发病率有所增加，其中原发性甲状旁腺功能亢进症（PHPT）是最常见的甲状旁腺疾病。PHPT 与发病（骨折、肾结石、慢性肾病）和死亡风险增加有关。PHPT 的症状可能不具有特异性，可能会延误诊断。大约 15% 的 PHPT 患者患有潜在的遗传性 PHPT，可能与甲状旁腺外表现有关，需要积极监测这些表现，如 1 型和 2A 型多发性内分泌肿瘤中所见。应为患有多腺体疾病、复发性 PHPT、年轻发病 PHPT（年龄≤40 岁）以及有甲状旁腺肿瘤家族史的患者提供遗传型基因检测。然而，大多数遗传性 PHPT 患者的潜在遗传原因仍不清楚。区分散发性和遗传性 PHPT 有助于制定甲状旁腺切除术的手术计划，并对家庭产生影响。目前已知与遗传性 PHPT 相关的基因约占散发性甲状旁腺肿瘤的一半。但大约一半的散发性甲状旁腺肿瘤的遗传原因仍不清楚。此外，甲状旁腺癌是一种罕见但可能致命的 PHPT 原因，目前尚无全身治疗方法。更好地了解甲状旁腺肿瘤的分子特征将使我们能够确定用于诊断的生物标志物和新的治疗靶点。