Blew Kathryn, Van Mater David, Page Laura
Pediatric Endocrinology & Diabetes, Department of Pediatrics, Duke University, Durham, NC 27705, USA.
Pediatric Hematology-Oncology, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
JCEM Case Rep. 2023 Aug 17;1(4):luad101. doi: 10.1210/jcemcr/luad101. eCollection 2023 Jul.
A previously healthy 11-year-old male was found to have a mass in the pancreatic head after several months of abdominal pain and jaundice. Pathology was consistent with a World Health Organization grade 2 pancreatic neuroendocrine tumor. He developed refractory hypertension and was found to have Cushing syndrome from ectopic ACTH secretion, with oligometastatic liver disease. He underwent surgical resection of the pancreatic tumor and metastases. Postoperatively, his Cushing syndrome resolved, but it reemerged 1 year later in the setting of disease recurrence. He was not a candidate for bilateral adrenalectomy. Ketoconazole therapy was inadequate and he was started on metyrapone, lanreotide, cabergoline, and spironolactone. Although this regimen was well-tolerated, his Cushing syndrome recurred 4 months later as his metastatic disease burden increased. Osilodrostat was begun and the dose was gradually increased in response to his uncontrolled Cushing syndrome. Osilodrostat resulted in rapid improvement and eventual normalization of his urinary free cortisol at a dose of 18 mg twice daily. He had no adverse effects. This rare case highlights the successful off-label use of osilodrostat, a medication intended for refractory Cushing disease in adult patients, in a pediatric patient with Cushing syndrome caused by ectopic ACTH secretion.
一名此前健康的11岁男性，在经历数月腹痛和黄疸后，被发现胰头有一肿块。病理结果符合世界卫生组织2级胰腺神经内分泌肿瘤。他出现了难治性高血压，且因异位促肾上腺皮质激素分泌导致库欣综合征，并伴有寡转移肝病。他接受了胰腺肿瘤及转移灶的手术切除。术后，他的库欣综合征得到缓解，但1年后疾病复发时又再次出现。他不适合进行双侧肾上腺切除术。酮康唑治疗效果不佳，于是开始使用甲吡酮、兰瑞肽、卡麦角林和螺内酯。尽管该治疗方案耐受性良好，但随着他转移疾病负担的增加，4个月后库欣综合征再次复发。开始使用奥西卓他，根据其未得到控制的库欣综合征情况逐渐增加剂量。奥西卓他每日两次，每次18毫克的剂量使他的尿游离皮质醇迅速改善并最终恢复正常。他没有出现不良反应。这个罕见病例凸显了奥西卓他成功的超说明书用药情况，该药物原本用于成年患者的难治性库欣病，而在此用于一名因异位促肾上腺皮质激素分泌导致库欣综合征的儿科患者。
