在6-pyruvoyl-tetrahydropterin合成酶缺乏症中出现晚期症状的高血性乳
Rai-Hseng Hsu1,2,3, Ni-Chung Lee1,2,3, Hui-An Chen1,2
1Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Orphanet journal of rare diseases
|November 11, 2023
概括
水生物素缺乏症可能会导致高益乳血症,特别是在青春期后的女性中. 卡伯戈林的辅助治疗可能是必要的,以控制BH4缺乏症患者的高血清素水平.
科学领域:
- 内分泌学 在内分泌学.
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 遗传学 是一个
背景情况:
- 甲基生物素 (BH4) 缺乏,特别是6-pyruvoyl-tetrahydropterin合成酶 (PTPS) 缺乏,是一种罕见的遗传疾病,是台湾超氨酸血症的主要原因.
- 本研究研究了青少年和成人患者PTPS缺乏的长期临床结果.
研究的目的:
- 审查患有PTPS缺乏症的青少年和成人患者的临床结果.
- 为了调查这些患者的高血性乳腺炎的患病率和管理.
主要方法:
- 对12名青少年和成年患者 (7名女性,5名男性) 进行了回顾性审查,这些患者患有PTPS缺乏.
- 分析治疗方案,包括BH4,莱沃多巴/卡比多巴和5-OH-三.
- 监测血类氨酸,氨酸和益生菌素水平;评估临床症状.
主要成果:
- 最初的治疗控制了血中的 fenylalanine 和 tyrosine 水平,并降低了孕乳素.
- 在5名患者中,在青春期出现或恶化过多的乳腺素高血症,呈现出高血素水平或不规则月经的症状.
- 两名接受卡贝戈林治疗的患者显示,前素水平迅速降低,症状得到缓解.
结论:
- 患有PTPS缺乏症的女性患者中,尤其是青春期后,高血糖血症是一个重大问题.
- 长期作用的多巴胺激动剂,如卡伯戈林,可能对BH4缺乏的综合管理至关重要,特别是在治疗超益生菌性血症方面.
关键词:
6 - 皮鲁四二二合成酶缺乏症BH4 BH4 BH4 BH4 BH4 BH4 BH4 BH4 BH4 BH4 BH4过phenylalaninemia 这是一个非常严重的疾病.过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia 过高prolactinemia在PTTPS中,PTTPS是最重要的.甲基生物缺乏症 甲基生物缺乏症相关概念视频
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