Alface Marisa Maibel, Moniz Patricia, Jesus Susana, Fonseca Cândida
Serviço de Medicina III, Hospital São Francisco Xavier-Centro Hospitalar Lisboa Ocidental (CHLO)/NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.
BMJ Case Rep. 2015 Aug 4;2015:bcr2015211184. doi: 10.1136/bcr-2015-211184.
Pheochromocytomas are rare tumours originating in chromaffin cells, representing 0.1-1% of all secondary hypertension (HT) cases. The majority are benign and unilateral, characterised by the production of catecholamines and other neuropeptides. Mainly located in the adrenal gland, they are more frequent between the 3rd and 5th decades of life; however, 10-25% can be associated with genetic familial syndromes (multiple endocrine neoplasia type 2 (MEN 2), type 1 neurofibromatosis and Von-Hippel-Landau disease in younger ages. The authors present a rare case of secondary HT due to a pheochromocytoma in a 15-year-old patient, whose metanephrine assay confirmed the diagnosis, and abdominal ultrasound and CT localised the tumour in the adrenal gland. HT was controlled with α and β blockers, with posterior retroperitoneal laparoscopic surgical intervention and subsequent resolution of HT. Age and concomitant hyperparathyroidism compelled genetic testing for the exclusion of MEN 2, which was negative.
嗜铬细胞瘤是起源于嗜铬细胞的罕见肿瘤，占所有继发性高血压（HT）病例的0.1-1%。大多数为良性且单侧，其特征是产生儿茶酚胺和其他神经肽。它们主要位于肾上腺，在30至50岁之间更为常见；然而，10-25%可能与遗传性家族综合征相关（年轻时为2型多发性内分泌腺瘤病（MEN 2）、1型神经纤维瘤病和冯-希佩尔-林道病）。作者报告了一例15岁患者因嗜铬细胞瘤导致继发性HT的罕见病例，其甲氧基肾上腺素检测确诊了该病，腹部超声和CT将肿瘤定位在肾上腺。通过α和β受体阻滞剂控制HT，随后进行后腹腔镜手术干预，HT得以缓解。患者的年龄和并发的甲状旁腺功能亢进促使进行基因检测以排除MEN 2，检测结果为阴性。
