一例伴有PHOX2B基因新突变、表现为中枢性睡眠呼吸暂停的先天性中枢性低通气综合征病例。
A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
作者信息
Amimoto Yuko, Okada Kenji, Nakano Hiroshi, Sasaki Ayako, Hayasaka Kiyoshi, Odajima Hiroshi
机构信息
Department of Pediatrics, Fukuoka National Hospital, Fukuoka, Japan.
Sleep Disorders Center, Fukuoka National Hospital, Fukuoka, Japan.
出版信息
J Clin Sleep Med. 2014 Mar 15;10(3):327-9. doi: 10.5664/jcsm.3542.
Abstract
UNLABELLED
Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype.
CITATION
Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
摘要
未标注
先天性中枢性低通气综合征（CCHS）是一种罕见疾病，其特征为呼吸自主控制异常导致通气不足。我们报告一名患有CCHS的女婴，她出现中枢性睡眠呼吸暂停，5个月大时经多导睡眠图首次证实。她是PHOX2B基因新型590delG突变的杂合子，该突变被归类为非聚丙氨酸重复突变（NPARM）。这种突变被认为与相对较轻的表型相关。
引用
Amimoto Y；Okada K；Nakano H；Sasaki A；Hayasaka K；Odajima H。一例因PHOX2B基因新型突变表现为中枢性睡眠呼吸暂停的先天性中枢性低通气综合征病例。
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