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家族性嗜铬细胞瘤诊治进展
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Abstract:
家族性嗜铬细胞瘤(Familial Pheochromocytoma, FP)是常染色体显性遗传病，家族性嗜铬细胞瘤可伴随某些遗传性综合征如：家族性视网膜及中枢性神经系统血管瘤病(Von-Hippel-Lindau disease，VHL病)，多发内分泌肿瘤2型(MEN2)，家族性副神经节瘤1~5型，神经纤维瘤病1型等，本文详细阐述了上述相关疾病与家族性嗜铬细胞瘤的相关性，对家族性嗜铬细胞瘤最新研究进展进行综述。
Familial pheochromocytoma (FP) is an autosomal dominant disorder. Familial pheochromocytoma can be accompanied by certain genetic syndromes such as familial retinal and central nervous sys-tem angiomatosis (VHL disease), multiple endocrine neoplasia type 2 (MEN2), familial paragangli-oma type 1~5, neurofibromatosis type 1, and so on, This article describes in detail the correlation between the above related diseases and familial pheochromocytoma, and reviews the latest re-search progress in familial pheochromocytoma.
| [1] | Conzo, G., Pasquali, D., Colantuoni, V., et al. (2014) Current Concepts of Pheochromocytoma. International Journal of Surgery, 12, 469-474. https://doi.org/10.1016/j.ijsu.2014.04.001 |
| [2] | 侯建全. 实用泌尿外科学[M]. 第3版. 北京: 人民卫生出版社, 2019: 95-104. |
| [3] | Korpershoek, E., Koffy, D., Eussen, B.H., et al. (2016) Complex MAX Re-arrangement in a Family with Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis. The Journal of Clinical Endocrinology & Metabolism, 101, 453-460. https://doi.org/10.1210/jc.2015-2592 |
| [4] | Saravana-Bawan, B. and Pasternak, J.D. (2022) Multiple Endocrine Neoplasia 2: An Overview. Therapeutic Advances in Chronic Disease, 13. https://doi.org/10.1177/20406223221079246 |
| [5] | Brandi, M.L., Gagel, R.F., Angeli, A., et al. (2001) Guide-lines for Diagnosis and Therapy of MEN Type 1 and Type 2. The Journal of Clinical Endocrinology & Metabolism, 86, 5658-5671. https://doi.org/10.1210/jcem.86.12.8070 |
| [6] | Richards, F.M., Webster, A.R., Mcmahon, R., et al. (1998) Molecular Genetic Analysis of von Hippel-Lindau Disease. Journal of Internal Medicine, 243, 527-533. https://doi.org/10.1046/j.1365-2796.1998.00334.x |
| [7] | Barontini, M., Levin, G. and Sanso, G. (2006) Characteris-tics of Pheochromocytoma in a 4- to 20-Year-Old Population. Annals of the New York Academy of Sciences, 1073, 30-37. https://doi.org/10.1196/annals.1353.003 |
| [8] | Manger, W.M. (2009) The Protean Manifestations of Pheochromo-cytoma. Hormone and Metabolic Research, 41, 658-663. https://doi.org/10.1055/s-0028-1128139 |
| [9] | Lenders, J.W., Pacak, K., Walther, M.M., et al. (2002) Biochemical Diagnosis of Pheochromocytoma: Which Test Is Best? JAMA, 287, 1427-1434. https://doi.org/10.1001/jama.287.11.1427 |
| [10] | H？nigschnabl, S., Gallo, S., Niederle, B., et al. (2002) How Accurate Is MR Imaging in Characterisation of Adrenal Masses: Update of a Long-Term Study. European Journal of Radiology, 41, 113-122.
https://doi.org/10.1016/S0720-048X(01)00443-0 |
| [11] | Shapiro, B., Copp, J.E., Sisson, J.C., et al. (1985) Io-dine-131 Metaiodobenzylguanidine for the Locating of Suspected Pheochromocytoma: Experience in 400 Cases. Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine, 26, 576-585. |
| [12] | Pacak, K. (2007) Preoperative Management of the Pheochromocytoma Patient. The Journal of Clinical Endocrinology & Metabolism, 92, 4069-4079. https://doi.org/10.1210/jc.2007-1720 |
| [13] | Zawadzka, K., Wi？ckowski, K., Ma？czak, P., et al. (2021) Selective vs Non-Selective Alpha-Blockade Prior to Adrenalectomy for Pheochromocytoma: Systematic Review and Meta-Analysis. European Journal of Endocrinology, 184, 751-760. https://doi.org/10.1530/EJE-20-1301 |
| [14] | 夏溟, 李汉忠, 刘广华, 等. 嗜铬细胞瘤术前准备的临床体会(附286例报告) [J]. 中华泌尿外科杂志, 2004(12): 24-26. |
| [15] | Gan, L., Meng, C., Li, K., et al. (2022) Safety and Effectiveness of Minimally Invasive Adrenalectomy versus Open Adrenalec-tomy in Patients with Large Adrenal Tumors (>/=5 cm): A Meta-Analysis and Systematic Review. International Journal of Surgery, 104, Article ID: 106779. https://doi.org/10.1016/j.ijsu.2022.106779 |
| [16] | Gan, L., Peng, L., Li, J., et al. (2022) Comparison of the Effectiveness and Safety of Robotic-Assisted and Laparoscopic in Adrenalectomy: A System-atic Review and Meta-Analysis. International Journal of Surgery, 105, Article ID: 106853. https://doi.org/10.1016/j.ijsu.2022.106853 |
| [17] | De Fourmestraux, A., Salomon, L., Abbou, C.C., et al. (2015) Ten Year Experience of Retroperitoneal Laparoscopic Resection for Pheochromocytomas: A Dual-Centre Study of 72 Cases. World Journal of Urology, 33, 1103-1107.
https://doi.org/10.1007/s00345-014-1397-z |
| [18] | Brauckhoff, M., Gimm, O., Thanh, P.N., et al. (2003) Critical Size of Residual Adrenal Tissue and Recovery from Impaired Early Postoperative Adrenocortical Function after Subtotal Bi-lateral Adrenalectomy. Surgery, 134, 1020-1027.
https://doi.org/10.1016/j.surg.2003.08.005 |
| [19] | Neumann, H.P.H., Tsoy, U., Bancos, I., et al. (2019) Comparison of Pheochromocytoma-Specific Morbidity and Mortality among Adults with Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy. JAMA Network Open, 2, e198898. https://doi.org/10.1001/jamanetworkopen.2019.8898 |
| [20] | Albanese, C.T. and Wiener, E.S. (1993) Routine Total Bilateral Adrenalectomy Is Not Warranted in Childhood Familial Pheochromocytoma. Journal of Pediatric Surgery, 28, 1248-1251.
https://doi.org/10.1016/S0022-3468(05)80307-0 |
| [21] | Ludwig, A.D., Feig, D.I., Brandt, M.L., et al. (2007) Recent Advances in the Diagnosis and Treatment of Pheochromocytoma in Children. The American Journal of Surgery, 194, 792-796. https://doi.org/10.1016/j.amjsurg.2007.08.028 |
| [22] | Amodru, V., Taieb, D., Guerin, C., et al. (2020) MEN2-Related Pheochromocytoma: Current State of Knowledge, Specific Characteristics in MEN2B, and Perspectives. Endocrine, 69, 496-503.
https://doi.org/10.1007/s12020-020-02332-2 |
