在患有普拉德-威利综合征的儿科患者中,我们是否应该定期评估下丘脑-垂体-上腺轴?
Anna Maria Wędrychowicz1,2, Katarzyna Doleżal-Ołtarzewska2, Agata Zygmunt-Górska2
1Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Kraków, Lesser Poland, Poland.
Frontiers in endocrinology
|July 12, 2024
概括
中枢上腺功能缺陷 (CAI) 很少发生在患有普拉德-威利综合征 (PWS) 的儿科患者中,即使接受生长激素治疗. 不建议进行常规查;诊断需要通过至少两项测试来确认.
科学领域:
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 中枢上腺功能衰竭 (CAI) 是患有普拉德-威利综合征 (PWS) 的儿科患者突然死亡的潜在原因.
- 在复合人体生长激素 (rhGH) 治疗期间,CAI的风险可能会增加.
研究的目的:
- 评估儿童PWS患者中CAI的患病率.
- 通过分析上腺反应测试,防止过度和不足地使用皮治疗.
- 审查PWS中关于CAI的现有文献.
主要方法:
- 研究了46名儿科PWS患者的多中心队列.
- 使用低剂量ACTH测试 (LDAT) 和/或葡萄糖激素刺激测试 (GST) 来评估上腺反应.
- 放射性免疫测试测量了荷尔蒙水平,具有正常上腺储备的特定皮质醇反应标准.
主要成果:
- 根据初步测试结果,在2/46名患者 (4.3%) 诊断出CAI.
- 经确认后,CAI仅在一个患者 (2.2%) 中得到了明确诊断,该患者接受了rhGH治疗.
- LDAT和GST结果之间的差异凸显了确认测试的必要性.
结论:
- 在儿科PWS患者中,CAI的患病率很低.
- 在所有PWS患者中,不建议对下丘脑-垂体-上腺轴 (HPAA) 进行例行查.
- 诊断CAI需要通过至少两个测试来确认,以避免过度治疗.
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