2 例 LPIN1 突变致致命性横纹肌溶解症。
Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
机构信息
Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France.
出版信息
J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4.
PMID:22480698
Abstract
We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.
摘要
我们报告了 2 例携带 LPIN1 突变的儿童致命性横纹肌溶解症病例，这些病例之前均有类似的心电图改变，包括弥漫性对称高振幅 T 波。我们的报告强调了这种疾病的严重性，以及在儿科重症监护病房中积极管理横纹肌溶解症发作的必要性。
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