Prader-Willi综合征患儿症状性低钠血症3例。

IF 1
Yuji Oto, Nobuyuki Murakami, Ryo Nakagawa, Masatsune Itoh, Toshiro Nagai, Tomoyo Matsubara
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引用次数: 0

摘要

目的:最近在9个参考中心进行的一项关于PWS患者低钠血症病例的大型回顾性队列研究显示,PWS患者中严重低钠血症很少见(0.5%);此外,所有病例都涉及成年人。在这里,我们描述了三个儿科病例严重低钠血症的PWS,与神经系统症状。病例介绍:2例女孩1例男孩,仅有1例患者表现为单亲失调。所有患者均在婴儿期出现低钠血症,并出现抽搐等临床症状。所有3例患者均通过静脉输液和限液改善,无后遗症。结论:我们报告三例不明原因的PWS症状性低钠血症患儿。对于PWS患者,特别是有抽搐等神经系统症状的患者,有必要考虑低钠血症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Three pediatric cases of symptomatic hyponatremia in Prader-Willi syndrome.

Objectives: A recent large retrospective cohort study of cases of hyponatremia in Prader-Willi syndrome (PWS), conducted at nine reference centers, showed that severe hyponatremia was rare in PWS (0.5%); furthermore, all cases involved adults. Here, we describe three pediatric cases of severe hyponatremia in PWS, with neurological symptoms.

Case presentation: The cases involved two girls and one boy, and only one patient showed uniparental disomy. All patients had hyponatremia during infancy and presented with clinical symptoms, such as convulsions. All three patients improved with intravenous fluids and fluid restriction, with no sequelae.

Conclusions: We report three pediatric cases of symptomatic hyponatremia of unknown cause in PWS. In patients with PWS, especially those with neurological symptoms such as convulsions, it is necessary to take hyponatremia into consideration.

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