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一名患有CHARGE综合征患者的阻塞性睡眠呼吸暂停

Obstructive Sleep Apnea in a Patient with CHARGE Syndrome.

作者信息

Trider Carrie-Lee, Blake Kim

机构信息

Dalhousie Medical School, 1459 Oxford Street, Halifax, NS, Canada B3H 4R2.

出版信息

Case Rep Otolaryngol. 2012;2012:907032. doi: 10.1155/2012/907032. Epub 2012 Aug 28.

DOI:10.1155/2012/907032
PMID:22970397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3434378/
Abstract

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

摘要

CHARGE综合征是一种遗传性疾病，其特征为后鼻孔闭锁、眼部缺损以及耳部和颅神经异常。我们报告了一名患有CHARGE综合征和阻塞性睡眠呼吸暂停的儿童。我们强调了从CHARGE综合征的典型特征中辨别阻塞性睡眠呼吸暂停相关症状的困难。针对我们的患者讨论了治疗方案。扁桃体切除术和腺样体切除术改善了该患者阻塞性睡眠呼吸暂停的身体症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7746/3434378/a0d28182530a/CRIM.OTOLARYNGOLOGY2012-907032.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7746/3434378/a0d28182530a/CRIM.OTOLARYNGOLOGY2012-907032.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7746/3434378/a0d28182530a/CRIM.OTOLARYNGOLOGY2012-907032.001.jpg

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引用本文的文献

1
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.CHARGE 综合征指南与缺失环节：颅部影像学。
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23.

本文引用的文献

1
Understanding obstructive sleep apnea in children with CHARGE syndrome.了解患有CHARGE综合征儿童的阻塞性睡眠呼吸暂停。
Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):947-53. doi: 10.1016/j.ijporl.2012.02.061. Epub 2012 Apr 25.
2
Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study.肉毒杆菌毒素注射到唾液腺中以减少 CHARGE 综合征的口腔分泌物：前瞻性病例研究。
Am J Med Genet A. 2012 Apr;158A(4):828-31. doi: 10.1002/ajmg.a.33241. Epub 2012 Mar 14.
3
Postoperative airway events of individuals with CHARGE syndrome.
患有CHARGE综合征个体的术后气道事件。
Int J Pediatr Otorhinolaryngol. 2009 Feb;73(2):219-26. doi: 10.1016/j.ijporl.2008.10.005. Epub 2008 Dec 5.
4
Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being.CHARGE综合征中的睡眠障碍：类型及其与行为和照料者幸福感的关系。
Dev Med Child Neurol. 2009 Feb;51(2):143-50. doi: 10.1111/j.1469-8749.2008.03146.x. Epub 2008 Nov 19.
5
The effectiveness of tonsillectomy and adenoidectomy in the treatment of pediatric obstructive sleep apnea/hypopnea syndrome: a meta-analysis.扁桃体切除术和腺样体切除术治疗小儿阻塞性睡眠呼吸暂停/低通气综合征的有效性：一项荟萃分析。
Otolaryngol Head Neck Surg. 2006 Jun;134(6):979-84. doi: 10.1016/j.otohns.2006.02.033.
6
Adolescent and adult issues in CHARGE syndrome.CHARGE综合征中的青少年及成人问题
Clin Pediatr (Phila). 2005 Mar;44(2):151-9. doi: 10.1177/000992280504400207.
7
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.CHARGE综合征的流行病学分析：一项加拿大研究的初步结果。
Am J Med Genet A. 2005 Mar 15;133A(3):309-17. doi: 10.1002/ajmg.a.30560.
8
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.染色体结构域基因家族一个新成员的突变导致CHARGE综合征。
Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8.
9
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.颞骨异常被提议作为CHARGE综合征诊断的主要标准。
Am J Med Genet. 2001 Mar 1;99(2):124-7. doi: 10.1002/1096-8628(20010301)99:2<124::aid-ajmg1114>3.0.co;2-9.
10
CHARGE association: an update and review for the primary pediatrician.CHARGE综合征：给儿科主治医生的最新综述
Clin Pediatr (Phila). 1998 Mar;37(3):159-73. doi: 10.1177/000992289803700302.