Divisão de Endocrinologia e Metabolismo, Faculdade de Medicina da Santa Casa de São Paulo, São Paulo, SP, Brasil.
Unidade de Adrenal e Hipertensão, Divisão de Endocrinologia e Metabolismo, Departamento de Medicina, Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, SP, Brasil.
Int Braz J Urol. 2023 May-Jun;49(3):307-319. doi: 10.1590/S1677-5538.IBJU.2023.0038.
Pheochromocytomas/paragangliomas (PPGL) are rare, metastatic, and potentially fatal neuroendocrine tumors, often neglected because they present symptoms similar to other prevailing clinical conditions such panic syndrome, thyrotoxicosis, anxiety, hypoglycemia, etc., delaying diagnosis and treatment. The rate of diagnosis of PPGL has been increasing with the improvement in the measurement of catecholamine metabolites and the expanding availability of imaging procedures. Its essential genetic nature has been extensively investigated, comprising more than 20 genes currently related to PPGL and more new genes will probably be revealed. This overview will shed some light on the clinical, laboratory, topographical, genetic diagnosis, and management of PPGL.
嗜铬细胞瘤/副神经节瘤（PPGL）是罕见的、转移性的、潜在致命的神经内分泌肿瘤，由于其表现出与其他常见临床病症（如惊恐综合征、甲状腺毒症、焦虑、低血糖等）相似的症状，常常被忽视，从而导致诊断和治疗的延误。随着儿茶酚胺代谢物测量和成像程序的广泛应用，PPGL 的诊断率不断提高。其基本的遗传性质已经得到了广泛的研究，包括 20 多个目前与 PPGL 相关的基因，可能还会发现更多的新基因。本文综述将重点介绍 PPGL 的临床、实验室、影像学、遗传诊断和治疗。
