Gimenez-Roqueplo Anne-Paule
Rev Prat. 2015 Jun;65(6):826-30.
Pheochromocytoma and functional paraganglioma (PH/PGL) are classical causes of secondary hypertension. The clinical practice guidelines for PH/PGL have been changed by the recent identification of a dozen of susceptibility genes. PH/PGL is the neuroendocrine tumor most affected by genetics. Total metanephrin should be measured in every young patient suffering of a resistant hypertension. The diagnosis is based on conventional imaging assciated with nuclear imaging. Genetic testing should be offered to every patient diagnosed for PH/PGL because the identification of a germline mutation, which is found in over 30% of the cases, will change his work-up and follow-up as well as offer the opportunity of a familial genetic testing in relatives. A specialized management is indicated, especially for patients with hereditary or metastatic PH/PGL, and should be performed in an expert center with a multidisciplinary team.
嗜铬细胞瘤和功能性副神经节瘤（PH/PGL）是继发性高血压的典型病因。最近发现了十几种易感基因，这改变了PH/PGL的临床实践指南。PH/PGL是受遗传学影响最大的神经内分泌肿瘤。对于每一位患有难治性高血压的年轻患者，都应检测总甲氧基肾上腺素。诊断基于传统影像学检查与核医学成像相结合。应为每一位被诊断为PH/PGL的患者提供基因检测，因为超过30%的病例中发现了种系突变，这将改变其检查和随访方式，并为亲属提供家族基因检测的机会。需要进行专门的管理，尤其是对于遗传性或转移性PH/PGL患者，并且应由多学科团队在专家中心进行。
