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罕见的ACTH独立库希综合征病例:诊断挑战和管理

Luís Salazar¹, Sara Alves Araújo², Mário Rui Correia³

¹Serviço de Pediatria, Centro Materno Infantil do Norte, 674892 Unidade Local de Saúde de Santo António , Porto, Portugal.

Journal of pediatric endocrinology & metabolism : JPEM

|April 24, 2025

概括

这一案例突出了诊断和治疗儿科库辛综合征 (CS) 的挑战. 甲基拉治疗,手术和奥西洛德罗斯塔特成功控制了发育迟缓的儿童的皮质醇水平.

科学领域:

儿科内分泌学儿科内分泌学
罕见疾病罕见疾病
上腺疾病上腺疾病

背景情况:

儿童的库希综合征 (CS) 是罕见的,并带来了诊断挑战.
与发育迟缓相关的ACTH独立的CS异常罕见.
早期诊断和量身定制的管理对于儿科CS患者至关重要.

研究的目的:

详细介绍一个罕见的儿科病例ACTH独立的CS的临床旅程.
为了说明这种情况的诊断方法和治疗策略.
讨论与发育迟缓相关的库辛综合征的管理.

主要方法:

一个3岁男孩的病例报告,具有全球发育迟缓和CS的症状.
生物化学评估包括ACTH和皮质醇水平.
图像学研究 (MRI,PET扫描) 和带病理检查的上腺切除术.
用 metyrapone 和 osilodrostat 进行药理治疗.

主要成果:

通过生物化学测试证实ACTH独立的CS诊断.
病理学揭示了额外腺切除术后的微块性非颜色上腺增生症.
通过 metyrapone, adrenalectomy 和 off-label osilodrostat 取得了成功的皮质醇控制.
脊髓瘤的临床症状随着持续正常的皮质醇水平而消失.

结论:

儿科ACTH-独立的CS带来了重大的诊断和治疗障碍.
多模式治疗方法,包括新型药物,如奥西洛德罗斯塔特,可以有效.
对非颜色微节上腺增生和发育迟缓的遗传因素进行进一步的研究是有必要的.

关键词:

这是一个独立于ACTH的独立机构.库辛综合征是什么意思库辛综合征是什么意思上腺切除术 (adrenalectomy) 是一种旋转的状态旋转的状态

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