Department of Nephrology, Beaumont Health, Royal Oak, Michigan, USA.
Oakland University William Beaumont School of Medicine, Rochester, Michigan, USA
BMJ Case Rep. 2022 Aug 26;15(8):e251113. doi: 10.1136/bcr-2022-251113.
A woman in her 40s presented with spells of hypertension, warmth, flushing and bradycardia for more than 1 year. Despite normal plasma metanephrines of 0.48 nmol/L (reference range: <0.50 nmol/L) and normal 24-hour urine metanephrines of 199 µg/day (reference range: 52-341 µg/day), an abdominal CT scan was obtained which revealed a 1.7 × 1.4 cm right adrenal gland nodule. During her next spell, 24-hour urine metanephrines were elevated at 585 µg/day with total metanephrines of 1026 µg/day (reference range: 140-785 µg/day). Subsequent MRI demonstrated a 1.5 × 1.5 cm right adrenal gland lesion concerning for phaeochromocytoma. Right adrenal gland excision was performed and pathology confirmed a benign phaeochromocytoma. Follow-up genetic testing was negative. This case highlights the challenges of identifying phaeochromocytomas in the clinical setting. Early imaging may assist in the timely diagnosis and treatment of these tumours in patients presenting with recurrent spells and negative biochemical screening.
一位 40 多岁的女性出现高血压、发热、潮红和心动过缓症状超过 1 年。尽管血浆代谢物浓度为 0.48 nmol/L(参考范围:<0.50 nmol/L)正常,24 小时尿液代谢物浓度为 199 µg/天(参考范围:52-341 µg/天)正常,但腹部 CT 扫描显示右侧肾上腺有 1.7×1.4cm 的结节。在下一次发作期间,24 小时尿液代谢物浓度升高至 585 µg/天,总代谢物浓度为 1026 µg/天(参考范围:140-785 µg/天)。随后的 MRI 显示右侧肾上腺有 1.5×1.5cm 的病变,提示嗜铬细胞瘤。进行了右侧肾上腺切除术,病理证实为良性嗜铬细胞瘤。随访基因检测为阴性。该病例强调了在临床环境中识别嗜铬细胞瘤的挑战。早期影像学检查可能有助于及时诊断和治疗这些肿瘤,这些肿瘤在反复出现症状且生化筛查阴性的患者中发生。