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在治疗布罗苏马布期间,两名患有X结合性低酸血症的儿科患者的三级性甲状腺功能增强症

Raja Padidela¹, Lauren Rayner², Annemieke M Boot³

¹Department of Paediatric Endocrinology, Manchester University NHS Foundation Trust Hospital, Manchester, UK; Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.

|November 8, 2024

概括

带有高血症的三级甲状腺功能障碍症是小儿X链接低血症 (XLH) 患者接受Burosumab治疗的罕见并发症. 在这些患者中,密切监测二级和三级甲状腺功能障碍症至关重要.

科学领域:

儿科内分泌学儿科内分泌学
遗传学和遗传性疾病
代谢性骨疾病代谢性骨疾病

背景情况:

与X相关的低酸血症 (XLH) 是一种罕见的遗传疾病,影响酸盐和维生素D的代谢.
二次性甲状腺功能增强症是接受治疗的XLH患者已知的并发症.
在儿科XLH患者中,三级甲状腺功能增强症与高热血症异常罕见.

研究的目的:

报告了两例儿科XLH患者的病例,他们在接受Burosumab治疗时出现过高血症的三级甲状腺功能障碍症.
要强调这种并发症的罕见发生情况,并强调需要保持警的监测.

主要方法:

两名患有XLH的女性儿科患者的病例报告.
在传统治疗 (酸盐和活性维生素D) 之后,患者接受了布罗苏马布治疗.
记录了临床过程,实验室值和治疗结果,包括副甲状腺切除术和药物调整.

主要成果:

这两名患者在接受Burosumab治疗期间都出现了带有高血的三级性甲状腺功能过高症.
在这两种情况下,手术管理 (副甲状腺切除术) 导致高血症的解决.
由于PTH波动,一名患者需要在手术后持续使用Cinacalcet治疗.

结论:

在这些接受布罗苏马布治疗的XLH患者中,三级甲状腺功能障碍的确切原因尚不清楚.
潜在的触发因素包括剂量后酸盐水平升高或PHEX突变对副甲状腺的直接影响.
定期监测二次和三次性偏甲状腺功能障碍症对于小儿XLH患者接受Burosumab治疗至关重要.

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