作者投稿
专家审稿
编辑办公
邮件订阅
RSS
-
摘要: 原发性甲状旁腺功能亢进症(primary hyperparathyroidism, PHPT)是引起高钙血症的最常见病因, 由一个或多个甲状旁腺病理性过量分泌甲状旁腺激素(parathyroid hormone, PTH)所致。随着血钙及PTH检查的普及, PHPT的发病率明显增加, 成为影响人类健康的常见内分泌疾病, 其诊治理念也在不断更新。绝大多数PHPT为散发性, 约5%~10%的病例以遗传性PHPT的形式发病。本文讨论PHPT的诊断及手术治疗进展, 以期为临床提供借鉴。
-
关键词:
- 原发性甲状旁腺功能亢进症 /
- 遗传性疾病 /
- 诊断 /
- 手术治疗
Abstract: Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcemia, which is due to excessive secretion of parathyroid hormone (PTH) from one or several parathyroid glands. With the tests of serum calcium and PTH being routinely employed, the incidence of PHPT has distinctly increased and PHPT has become a common endocrine disorder. The concept of diagnosis and treatment for PHPT has been developing continuously. Most cases of PHPT are sporadic, while 5%-10% of cases are hereditary. In this literature, we reviewed the advances in diagnosis and surgical treatment of PHPT.-
Key words:
- primary hyperparathyroidism /
- hereditary disease /
- diagnosis /
- surgical treatment
利益冲突 无 -
表 1 遗传/家族性原发性甲状旁腺功能亢进症
疾病 致病基因 OMIM代码 临床特点 其他常见受累部位/器官 MEN1 MEN1 131100 最常见的遗传性PHPT(70%) 胰腺、垂体 MEN2(A) RET 171400 PHPT比例低于MEN1 甲状腺、肾上腺 MEN4 CDKN1B 610755 临床表现与MEN1类似 胰腺、垂体 HPT-JT CDC73 145001 甲状旁腺癌可能性较高 颌骨、肾脏、子宫 FHH1/2/3 CaSR/GNA11/AP2S1 145980/145981/600740 发病早，症状轻，多无须手术 - NSHPT CaSR 239200 发病早，病情危重，需急诊手术 - FIHPT CaSR、CDC73、MEN1、GCM2 145000 依据致病基因不同呈现异质性 - MEN：多发内分泌肿瘤；HPT-JT：甲状旁腺功能亢进症-颌骨肿瘤综合征；FHH：家族性低尿钙性高钙血症；NSHPT：新生儿重症甲状旁腺功能亢进症；FIHPT：家族性孤立性原发性甲状旁腺功能亢进症；OMIM：在线人类孟德尔遗传数据库；PHPT：原发性甲状旁腺功能亢进症 
下载: 导出CSV
-
[1] Bilezikian JP, Bandeira L, Khan A, et al. Hyperparathyroidism[J]. Lancet, 2018, 391:168-178. doi: 10.1016/S0140-6736(17)31430-7 [2] Walker MD, Silverberg SJ. Primary hyperparathyroidism[J]. Nat Rev Endocrinol, 2018, 14:115-125. doi: 10.1038/nrendo.2017.104 [3] 中国研究型医院学会甲状旁腺及骨代谢疾病专业委员会, 中国研究型医院学会罕见病分会.甲状旁腺癌诊治的专家共识[J].中华内分泌代谢杂志, 2019, 35:361-368. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zhnfmdx201905002 [4] 中华医学会骨质疏松和骨矿盐疾病分会, 中华医学会内分泌分会代谢性骨病学组.原发性甲状旁腺功能亢进症诊疗指南[J].中华骨质疏松和骨矿盐疾病杂志, 2014, 7:187-198. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=zhgzsshgkyjbzz201403003 [5] Lavryk OA, Siperstein AE. Use of Calcium and Parathyroid Hormone Nomogram to Distinguish Between Atypical Primary Hyperparathyroidism and Normal Patients[J]. World J Surg, 2017, 41:122-128. doi: 10.1007/s00268-016-3716-6 [6] Silva BC, Cusano NE, Bilezikian JP. Primary hyperparathyroidism[J]. Best Pract Res Clin Endocrinol Metab, 2018:101247. doi: 10.1016/j.beem.2018.09.013 [7] Yu N, Donnan PT, Murphy MJ, et al. Epidemiology of primary hyperparathyroidism in Tayside, Scotland, UK[J]. Clin Endocrinol (Oxf), 2009, 71:485-493. doi: 10.1111/j.1365-2265.2008.03520.x [8] Piketty ML, Prie D, Sedel F, et al. High-dose biotin therapy leading to false biochemical endocrine profiles:validation of a simple method to overcome biotin interference[J]. Clin Chem Lab Med, 2017, 55:817-825. doi: 10.1515/cclm-2016-1183 [9] Cetani F, Pardi E, Marcocci C. Parathyroid Carcinoma[J]. Front Horm Res, 2019, 51:63-76. [10] Cui M, Hu Y, Zheng B, et al. Cancer-derived Immunoglobulin G:A Novel Marker for Differential Diagnosis and Relapse Prediction in Parathyroid Carcinoma[J]. Clin Endocrinol (Oxf), 2020, 92:461-467. doi: 10.1111/cen.14158 [11] Bilezikian JP, Brandi ML, Eastell R, et al. Guidelines for the Management of Asymptomatic Primary Hyperparathyroidism:Summary Statement from the Fourth International Workshop[J]. J Clin Endocrinol Metab, 2014, 99:3561-3569. doi: 10.1210/jc.2014-1413 [12] Liu Y, Dang Y, Huo L, et al. Preoperative localisation of adenomas in primary hyperparathyroidism:the value of11C-choline PET/CT in patients with negative or discordant ultrasonography and 99mTc-Sesta-MIBI-SPECT/CT[J]. J Nucl Med, 2020, 61:584-589. doi: 10.2967/jnumed.119.233213 [13] Woisetschläger M, Gimm O, Johansson K, et al. Dual energy 4D-CT of parathyroid adenomas not clearly localized by sestamibi scintigraphy and ultrasonography-a retrospective study[J]. Eur J Radiol, 2020, 124:108821. doi: 10.1016/j.ejrad.2020.108821 [14] 张翔, 胡亚, 王梦一, 等.原发性甲状旁腺功能亢进症的术前诊断与外科治疗策略[J].中华内分泌外科杂志, 2018, 12:274-277. http://www.wanfangdata.com.cn/details/detail.do?_type=perio&id=nfmwk201804003 [15] Bhangu JS, Riss P. The role of intraoperative parathyroid hormone (IOPTH) determination for identification and surgical strategy of sporadic multiglandular disease in primary hyperparathyroidism (pHPT)[J]. Best Pract Res Clin Endocrinol Metab, 2019, 33:101310. doi: 10.1016/j.beem.2019.101310 [16] Thielmann A, Kerr P. Validation of selective use of intraoperative PTH monitoring in parathyroidectomy[J]. J Otolaryngol Head Neck Surg, 2017, 46:10. doi: 10.1186/s40463-017-0188-0 [17] Najafian A, Kahan S, Olson MT, et al. Intraoperative PTH May Not Be Necessary in the Management of Primary Hyperparathyroidism Even with Only One Positive or Only Indeterminate Preoperative Localization Studies[J]. World J Surg, 2017, 41:1500-1505. doi: 10.1007/s00268-017-3871-4 [18] Singh Ospina NM, Rodriguez-Gutierrez R, Maraka S, et al. Outcomes of Parathyroidectomy in Patients with Primary Hyperparathyroidism:A Systematic Review and Meta-analysis[J]. World J Surg, 2016, 40:2359-2377. doi: 10.1007/s00268-016-3514-1 [19] Bakkar S, Materazzi G, Biricotti M, et al. Minimally invasive video-assisted thyroidectomy (MIVAT) from A to Z[J]. Surg Today, 2016, 46:255-259. doi: 10.1007/s00595-015-1241-0 [20] Arora A, Garas G, Tolley N. Robotic Parathyroid Surgery:Current Perspectives and Future Considerations[J]. ORL J Otorhinolaryngol Relat Spec, 2018, 80:195-203. doi: 10.1159/000488355 [21] Cetani F, Saponaro F, Borsari S, et al. Familial and Hereditary Forms of Primary Hyperparathyroidism[J]. Front Horm Res, 2019, 51:40-51. [22] Cristina E, Alberto F. Management of familial hyperparathyroidism syndromes:MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism[J]. Best Pract Res Clin Endocrinol Metab, 2018, 32:861-875. doi: 10.1016/j.beem.2018.09.010 [23] Delellis RA, Mangray S. Heritable forms of primary hyperparathyroidism:a current perspective[J]. Histopathology, 2018, 72:117-132. doi: 10.1111/his.13306 [24] Giusti F, Cianferotti L, Boaretto F, et al. Multiple endocrine neoplasia syndrome type 1:institution, management, and data analysis of a nationwide multicenter patient database[J]. Endocrine, 2017, 58:349-359. doi: 10.1007/s12020-017-1234-4 [25] Vannucci L, Marini F, Giusti F, et al. MEN1 in children and adolescents:Data from patients of a regional referral center for hereditary endocrine tumors[J]. Endocrine, 2018, 59:438-448. doi: 10.1007/s12020-017-1322-5 [26] Di Meo G, Sgaramella LI, Ferraro V, et al. Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome:case report and systematic literature review[J]. Clin Exp Med, 2018, 18:585-593. doi: 10.1007/s10238-018-0512-7 [27] Pieterman CR, van Hulsteijn LT, den Heijer M, et al. Primary hyperparathyroidism in MEN1 patients:a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype[J]. Ann Surg, 2012, 255:1171-1178. doi: 10.1097/SLA.0b013e31824c5145 [28] Udelsman R, åkerström G, Biagini C, et al. The Surgical Management of Asymptomatic Primary Hyperparathyroidism:Proceedings of the Fourth International Workshop[J]. J Clin Endocrinol Metab, 2014, 99:3595-3606. doi: 10.1210/jc.2014-2000 [29] Romei C, Pardi E, Cetani F, et al. Genetic and clinical features of multiple endocrine neoplasia types 1 and 2[J]. J Oncol, 2012:705036. [30] Romei C, Ciampi R, Elisei R. A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma[J]. Nat Rev Endocrinol, 2016, 12:192-202. doi: 10.1038/nrendo.2016.11 [31] Machens A, Lorenz K, Dralle H. Peak incidence of pheochromocytoma and primary hyperparathyroidism in multiple endocrine neoplasia 2:need for age-adjusted biochemical screening[J]. J Clin Endocrinol Metab, 2013, 98:E336-E345. doi: 10.1210/jc.2012-3192 [32] O'Riordain DS, O'Brien T, Grant CS, et al. Surgical management of primary hyperparathyroidism in multiple endocr-ine neoplasia types 1 and 2[J]. Surgery, 1993, 114:1031-1039. [33] Guerin C, Romanet P, Taieb D, et al. Looking beyond the thyroid:advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms[J]. Endocr Relat Cancer, 2018, 25:T15-T28. doi: 10.1530/ERC-17-0266 [34] Alrezk R, Hannah-Shmouni F, Stratakis CA. MEN4 and CDKN1B mutations:the latest of the MEN syndromes[J]. Endocr Relat Cancer, 2017, 24:T195-T208. doi: 10.1530/ERC-17-0243 [35] Lee M, Pellegata NS. Multiple endocrine neoplasia syndro-mes associated with mutation of p27[J]. J Endocrinol Invest, 2013, 36:781-787. [36] Torresan F, Iacobone M. Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature[J]. Int J Endocrinol, 2019.doi: 10.1155/2019/1761030.[Epubaheadofprint]. [37] Mehta A, Patel D, Rosenberg A, et al. Hyperparathyroidism-jaw tumor syndrome:Results of operative management[J]. Surgery, 2014, 156:1315-1325. doi: 10.1016/j.surg.2014.08.004 [38] Iacobone M, Camozzi V, Mian C, et al. Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome:Analysis of Five Families with CDC73 Mutations[J]. World J Surg, 2020, 44:508-516. doi: 10.1007/s00268-019-05156-y [39] Pardi E, Borsari S, Saponaro F, et al. Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features[J]. PLoS One, 2017, 12:e186485. [40] Simonds WF, James-Newton LA, Agarwal SK, et al. Familial isolated hyperparathyroidism:clinical and genetic characteristics of 36 kindreds[J]. Medicine (Baltimore), 2002, 81:1-26. doi: 10.1097/00005792-200201000-00001 -
点击查看大图
表(1)
计量
- 文章访问数: 584
- HTML全文浏览量: 177
- PDF下载量: 132
- 被引次数: 0
