中国循证儿科杂志2013，Vol.8Issue(2)：136-139,4.DOI:10.3969/j.issn.1673-5501.2013.02.011
先天性中枢性低通气综合征1例并文献复习
Congenital central hypoventilation syndrome in a Chinese infant and literature review
任宏 1王莹 1余永国 1李璧如1
作者信息
- 1. 上海交通大学医学院附属上海儿童医学中心,上海,200127
- 折叠
摘要
Abstract
Objective Congenital central hypoventilation syndrome ( CCHS ) is a rare autosomal dominant disorder characterized by failure in the autonomic control of breathing. Methods The clinical data of this patient were collected. The PHOX2B gene was analyzed by DNA sequecing in patient and his parents who were known with CCHS. Results According to the clinical data, this patient typically presented hypoventilation during sleeping, without any associated primary cardiac, pulmonary, neuromuscular or brainstem lesions, or any metabolic diseases. DNA sequencing of the PHOX2B gene showed expanded alleles containing polyalanine 25 repeats in the patient. Conclusions According to the clinical and genetic diagnosis, this patient presented CCHS. DNA sequencing of the PHOX2B gene identified a mutation in exon 3 ( genotype of 20/25 ) in the patient but not in his parents.关键词
先天性中枢性低通气综合征/PHOX2B基因Key words
Congenital central hypoventilation syndrome/ PHOX2B gene引用本文复制引用
任宏,王莹,余永国,李璧如..先天性中枢性低通气综合征1例并文献复习[J].中国循证儿科杂志,2013,8(2):136-139,4.
