Sudden death in Lesch-Nyhan disease.
Sudden death in Lesch-Nyhan disease.
复制标题
因 Lesch-Nyhan 病突然死亡。
DOI：
10.1017/s0012162206002015
复制
发表时间：
2006
影响因子：
3.8
通讯作者：
Jinnah,HA
中科院分区：
文献类型：
--
作者：
Neychev,VladimirKostadinov;Jinnah,HA
为了提高对莱施-尼汉病（LND）猝死的认识并探讨其潜在原因，我们报告了5名最终发生猝死的LND男性患者的前期临床特征和实验室评价，沿着另外3名在生命中发生严重呼吸系统事件的男性患者。患者年龄2 ~ 45岁。LND猝死的原因似乎是呼吸系统而不是心源性的。所有的病例都不能轻易地与单一的呼吸过程联系起来。相反，不同的呼吸过程似乎在不同的情况下运作。这些可能包括误吸、喉痉挛、中枢性呼吸暂停、紫绀性屏气和高颈椎损伤。更好地认识这些过程将有助于指导适当的检查和管理，包括胸部成像，气道内窥镜检查，多导睡眠图，脑电图，脑和/或脊柱成像。
To increase awareness of sudden and unexpected death in Lesch‐Nyhan disease (LND) and to explore its potential causes, we report the anteceding clinical features and laboratory evaluations of five males with LND who ultimately experienced sudden and unexpected death, along with three additional males who suffered serious respiratory events during life. The ages of patients ranged from 2 to 45 years. The cause of sudden death in LND appears to have a respiratory rather than a cardiogenic basis. All cases cannot be linked readily with a single respiratory process. Instead, different respiratory processes appear to operate in different cases. These may include aspiration, laryngospasm, central apnea, cyanotic breath‐holding spells, and high cervical spine damage. Better recognition of these processes will help to guide appropriate workup and management that could include chest imaging, endoscopy of the airways, polysomnography, electroencephalogram, and brain and/or spine imaging.