Donckier J E, Michel L
Services of Endocrinology, University Hospital of Mont-Godinne, Université Catholique de Louvain, Yvoir, Belgium.
Acta Chir Belg. 2010 Mar-Apr;110(2):140-8. doi: 10.1080/00015458.2010.11680587.
Phaeochromocytomas are catecholamine-secreting tumours that arise from chromaffin cells of the adrenal medulla and extra-adrenal sites. Extra-adrenal phaeochromocytomas are called paragangliomas. A diagnosis of phaeochromocytoma is suspected by typical paroxysmal symptoms, unusual or refractory hypertension, discovery of an adrenal incidentaloma or a family history of phaeochromocytoma or paraganglioma, possibly associated with other genetic syndromes (multiple endocrine neoplasia type 2 A or B, neurofibromatosis type 1 and von Hippel-Lindau disease). It can be confirmed by measurements of urinary or plasma fractionated catecholamines and metanephrines. The best diagnostic performances are achieved by metanephrines. Twenty-four hour urine fractionated metanephrines are still recommended as a screening test but some experts prefer plasma measurements in high-risk patients. Increased serum chromogranin-A levels, combined with high catecholamine or metanephrine in a patient with normal renal function is also a tool, virtually diagnostic of phaeochromocytoma. Recent studies have suggested that 25% of patients with phaeochromocytoma have germline mutations of several genes (NF1, VHL, SDHD, SDHB and RET). Thus, genetic testing should be carried out according to an algorithm of risk factors and specific characteristics. Once a biochemical diagnosis of phaeochromocytoma is made, a CT scan or MRI of the abdomen and pelvis should be performed first. If these investigations remain negative, the chest and neck should be explored. After anatomical imaging, functional imaging by 123I-MIBG should be considered. If the MIBG scan is negative, other imaging modalities have recently proven to be useful (PET, Octreoscan). After localization, the treatment of phaeochromocytoma is a surgical resection, which may be laparoscopic. Preoperative preparation with alpha- and beta-adrenergic blockade and/or calcium channel blockers associated with volume expansion is essential. Malignant phaeochromocytoma is rare and its treatment still unsatisfying. Phaeochromocytoma during pregnancy is also rare and its diagnosis easily missed because of its clinical resemblance to pre-eclampsia.
嗜铬细胞瘤是一种分泌儿茶酚胺的肿瘤，起源于肾上腺髓质和肾上腺外部位的嗜铬细胞。肾上腺外嗜铬细胞瘤称为副神经节瘤。典型的阵发性症状、不寻常或难治性高血压、肾上腺意外瘤的发现或嗜铬细胞瘤或副神经节瘤家族史，可能与其他遗传综合征（2A型或B型多发性内分泌腺瘤、1型神经纤维瘤病和von Hippel-Lindau病）相关，提示可能患有嗜铬细胞瘤。可通过测定尿或血浆中分离的儿茶酚胺和甲氧基肾上腺素来确诊。甲氧基肾上腺素的诊断性能最佳。仍推荐测定24小时尿分离甲氧基肾上腺素作为筛查试验，但一些专家更倾向于对高危患者进行血浆检测。在肾功能正常的患者中，血清嗜铬粒蛋白-A水平升高，同时儿茶酚胺或甲氧基肾上腺素水平升高，也是一种几乎可诊断嗜铬细胞瘤的手段。最近的研究表明，25%的嗜铬细胞瘤患者存在几种基因（NF1、VHL、SDHD、SDHB和RET）的种系突变。因此，应根据危险因素和特定特征的算法进行基因检测。一旦做出嗜铬细胞瘤的生化诊断，应首先进行腹部和盆腔的CT扫描或MRI检查。如果这些检查结果为阴性，则应检查胸部和颈部。在进行解剖成像后，应考虑进行123I-MIBG功能成像。如果MIBG扫描结果为阴性，最近已证明其他成像方式也有用（PET、奥曲肽扫描）。定位后，嗜铬细胞瘤的治疗是手术切除，可采用腹腔镜手术。术前使用α和β肾上腺素能阻滞剂和/或钙通道阻滞剂并结合扩容进行准备至关重要。恶性嗜铬细胞瘤罕见，其治疗仍不尽人意。妊娠期嗜铬细胞瘤也很罕见，由于其临床表现与子痫前期相似，很容易漏诊。
