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Xywav:唐氏综合征特发性嗜睡症的一种治疗选择。

Xywav: A Treatment Option for Idiopathic Hypersomnia in Down Syndrome.

作者信息

Sanchez Serena, Allen Julie

机构信息

Internal Medicine, White County Medical Center, Searcy, USA.

Sleep Medicine, Searcy Medical Center, Searcy, USA.

出版信息

Cureus. 2025 Aug 4;17(8):e89339. doi: 10.7759/cureus.89339. eCollection 2025 Aug.

Abstract

Idiopathic hypersomnia (IH) is a rare and chronic neurological sleep disorder in which patients experience excessive daytime sleepiness (EDS) with symptoms often overlapping with numerous other sleep conditions. This diagnostic overlap can further delay accurate diagnosis and treatment, which poses significant challenges for both patients and clinicians. Additionally, vulnerable populations, such as those with Down syndrome (DS), face further obstacles given the absence of therapeutic studies addressing IH in DS. This case presentation highlights the case of a 40-year-old female patient with DS who suffered from substantial hypersomnolence and had responded favorably to a supervised trial of Xywav (calcium, magnesium, potassium, or sodium oxybates), making this the first known case presentation to demonstrate an effective treatment strategy for this population.

摘要

特发性嗜睡症(IH)是一种罕见的慢性神经睡眠障碍,患者会出现日间过度嗜睡(EDS),其症状常与许多其他睡眠状况重叠。这种诊断上的重叠会进一步延误准确的诊断和治疗,给患者和临床医生都带来重大挑战。此外,像唐氏综合征(DS)患者这样的弱势群体,由于缺乏针对DS患者IH的治疗研究,面临着更多障碍。本病例报告重点介绍了一名40岁的DS女性患者,她患有严重的嗜睡症,并且对Xywav(钙、镁、钾或钠盐羟丁酸钠)的监督试验反应良好,这是已知的首个证明针对该人群有效治疗策略的病例报告。

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