PDF(Pubmed)
Abstract：
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients\' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
摘要：
原发性甲状旁腺功能亢进(PHPT),一种相对常见的疾病，其特征是高钙血症，血清甲状旁腺激素（PTH）浓度升高或异常正常，可能作为遗传性综合症的一部分或作为非综合症的疾病发生。相关的综合征包括多发性内分泌瘤1-5型（MEN1-5）和甲状旁腺功能亢进伴颌骨肿瘤（HPT-JT）综合征，非综合征型包括家族性低钙血症高钙血症1-3型（FHH1-3），家族性孤立性甲状旁腺功能亢进（FIHP），和新生儿重度甲状旁腺功能亢进（NS-HPT）。这种遗传形式可能发生在>10%的PHPT患者中，它们的识别对于基因特异性筛查方案的实施和其他相关肿瘤的研究非常重要。综合征性PHPT倾向于多灶性和多腺体，大多数患者需要甲状旁腺切除术，目的是限制与高钙血症相关的终末器官损害。特别是骨质疏松症，肾结石,和肾衰竭。一些非综合征型PHPT患者可能存在MEN1基因或钙敏感受体（CASR）突变，其功能缺失突变通常导致FHH1，这是一种与轻度高钙血症相关的疾病，可能遵循良性临床病程。测量尿钙肌酐比值清除率（UCCR）可能有助于区分FHH患者和PHPT患者。由于大多数FHH患者的尿钙排泄较低（UCCR<0.01）。一旦基因检测证实了PHPT的遗传原因，可以向患者亲属提供进一步的基因检测，并可以在这些受影响的家庭成员中进行后续筛查，这可以防止正常人进行不适当的测试。
