患儿存在双侧等位基因突变，导致严重中枢性睡眠呼吸暂停。
Severe central sleep apnea in a child with biallelic variants in .
机构信息
Sleep Wake Disorders Center, Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
Division of Pediatric Respiratory and Sleep Medicine, Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York.
出版信息
J Clin Sleep Med. 2022 Oct 1;18(10):2507-2513. doi: 10.5664/jcsm.10146.
UNLABELLED
The sodium leak channel, nonselective (NALCN), is necessary for the proper function of the neurons that play an important role in the sleep-wake cycle and regulation of breathing patterns during wakefulness and sleep. We report a 38-month-old male with developmental delay, hypotonia, and severe central sleep apnea with periodic breathing requiring noninvasive ventilation during sleep, who was found to have novel biallelic pathogenic variants in . A review of the literature illustrates 17 additional children with biallelic variants in the gene. The clinical and sleep manifestations of these children are discussed.
CITATION
Maselli K, Park H, Breilyn MS, Arens R. Severe central sleep apnea in a child with biallelic variants in . . 2022;18(10):2507-2513.
目的
描述一个患有严重中枢性睡眠呼吸暂停的儿童，该儿童存在. 基因的双等位变异。
方法
我们报告了一名 38 个月大的男性，存在发育迟缓、低张力和严重的中枢性睡眠呼吸暂停，需要在睡眠期间进行无创通气，该患者还存在新型的双等位变异。对文献进行了回顾，共发现 17 名儿童存在. 基因的双等位变异。讨论了这些儿童的临床和睡眠表现。
结果
在 18 名儿童中，13 名被诊断为先天性中枢性肺泡通气不足综合征，2 名被诊断为先天性中枢性低通气综合征，1 名被诊断为非综合征性发育迟缓伴周期性呼吸。所有儿童均有严重的中枢性睡眠呼吸暂停，其中 11 名儿童需要无创通气。
结论
基因的双等位变异可导致严重的中枢性睡眠呼吸暂停，这在患有先天性中枢性肺泡通气不足综合征、先天性中枢性低通气综合征和非综合征性发育迟缓伴周期性呼吸的儿童中已有报道。
Zotero 插件