342名患有不同类型超氨酸血症的患者的发育和认知结果
Sibel Oz Yildiz1,2, Halise Neslihan Onenli Mungan3, Deniz Kor3
1Department of Pediatrics, Cukurova University Medical Faculty, Adana, Türkiye.
概括
超氨酸血症 (HPA) 和氨酸尿症 (PKU) 患者需要终身坚持正常发育. 未经治疗的HPA患者表现出发育迟缓,这促使重新评估治疗开始值.
科学领域:
- 儿童的新陈代谢和营养
- 神经发育障碍 神经发育障碍
- 遗传学和罕见疾病
背景情况:
- 超氨血症 (HPA) 涵盖了一系列疾病,包括基尿症 (PKU),其特点是血氨 (Phe) 水平升高.
- HPA患者的神经发育和认知结果受到各种因素的影响,需要更深入地了解最佳管理.
研究的目的:
- 评估不同类型HPA患者的神经发育和认知结果.
- 确定影响这些结果的因素,包括诊断时的年龄,治疗和血Phe水平.
- 为了为关于血Phe值开始饮食治疗的辩论提供信息.
主要方法:
- 追溯评估342名HPA患者 (轻度,中度,经典PKU和未经治疗的HPA) 的发展/认知评估 (1984-2018).
- 使用了丹佛发育查测试 (DDST),斯坦福-比内特和儿童维克斯勒智力表 (WISC-R) 进行评估.
- 分析了智力障碍/发育迟缓 (ID/DD),诊断时的年龄,诊断方法,血Phe水平和脑MRI发现之间的关系.
主要成果:
- 在接受治疗的患者中发现了ID/DD和诊断时的年龄/诊断方法之间的显著关联 (p < 0.001,p < 0.01).
- 在随访期间,在ID/DD患者中观察到更高的血Phe水平 (p < 0.024).
- 在MRI上白质异常与PKU严重程度,ID/DD和晚期血Phe水平相关 (p = 0.01,p < 0.001).
- 值得注意的是,10%未经治疗的HPA患者表现出ID/DD,没有其他已知的危险因素.
结论:
- 终身坚持和定期跟踪对于PKU的正常神经发育和认知结果至关重要.
- 跨中心的临床管理中的异质性需要注意.
- 在未经治疗的HPA患者中,发育延迟10%需要紧急重新评估血Phe治疗启动值.
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