摘要
患儿,女性,11个月,于2013年11月9日门诊预约进行睡眠监测.家长主诉患儿出生时即患有“先天性中枢性低通气综合征”,于医院行CPAP治疗,1个半月后出院.自备呼吸机及吸氧装置,夜间需吸氧,吸氧情况下无紫绀现象.患儿夜间无睡眠打鼾,但夜间睡眠时有呼吸暂停现象.
出处
《世界睡眠医学杂志》
2015年第5期318-320,共3页
World Journal of Sleep Medicine
参考文献8
-
1WeeseMayerDE,BerryKravisEM,CeccheriniI,etal.AnofficialATSclinicalpolicystatement:congenitalcentralhypoventilationsyndrome:geneticbasis,diagnosis,andmanagement[J].Am JRespirCritCareMed,2010,181(6):626-644.
-
2SouthallDP,SamuelsMP,TalbertDG.Recurrentcyanoticepisodeswithseverearterialhypoxemiaandintrapulmonaryshunting:amechanism forsuddenimpenddeath[J].ArchDisChild,1990,65(9):953-961.
-
3CutzE,MaKF,PerrinDG.Peripheralchemoreceptorsincongenitalcentralhypoventilationsyndrome[J].AMJRespirCritCareMed,1997,155(1):358-363.
-
4ChildF,CourielJ.Thecontrolofbreathingwithreferencetocongenitalcentralhypoventilationsyndrome[J].JRSocMed,1998,91(9):479-483.
-
5GozalD,MarcusCL,ShoseyovD,etal.Peripheralchemoreceptorfunctioninchildrenwiththecongenitalcentralhypoventilationsyndrome[J].JApplPhysiol,1993,74(1):1379-387.
-
6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. 被引量:8
-
7李秋平,刘敬,何玺玉,杨尧,韩涛,梁婧,封志纯.成功救治新生儿先天性中枢性低通气综合征1例报告[J].临床儿科杂志,2013,31(6):592-593. 被引量:12
-
8VanderlaunM,HolbrookCR,WangM,etal.Epidemiologicsurveyof196patientswithcongenitalcentralhypoventilationsyndrome[J].PediatrPulmonol,2004,37:217-229.
二级参考文献26
-
1Mellins RB, Balfour HH Ir, Turino GM, et al. Failure of automatic control of ventilation (On dine' s curse). Report of an infant born with this syndrome and review of the literature. Medicine ( Baltimore) , 1970, 49( 6) : 487 -504.
-
2Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med, 2004, 170( 1) : 16- 21.
-
3Weese-Mayer DE, Shannon DC, Keens TG, et al. American Thoracic Society. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med, 1999, 160( 1): 368-373.
-
4Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/ control family study of ANS dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet, 2001,100 (3): 237-245.
-
5Todd ES, Weinberg SM, Berry-kravis EM, et al. Facial Phenotype in children and young adults with PHOX2Bdetermined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res, 2006, 59 (1) :3945.
-
6Trang H, Dehan M, Beaufils F, et al. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest, 2005, 127( 1): 72-79.
-
7Trochet D, O'Brien LM, Gozal D, er al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet, 2005, 76( 3): 421- 426.
-
8Weese-Mayer DE, Marazita MI, Berry-Kravis EM. Congenital central hypoventilation syndrome. Genereviews at genetests: medical genetics information resource ( database online) 2008. University of Washington, Seattle, 1997-2007. Available at http://www. genetests. org.
-
9Loghmanee DA, Rand CM, Zhou L, et al. Paired-like homeobox gene 2B( PHOX2B) and congenital central hypoventilation syndrome( CCHS) : genotype/phenotype correlation in cohort of 347 cases. Am J Respir Crit Care Med, 2009,179: A6341.
-
10Brunet JF, Pattyn A. Phox2b genes-from patterning to connectivity. Curr Opin Genet Dev, 2002, 12( 4) : 435-440.
共引文献13
-
1葛琪琦,郭晓婷,杨坤,周磊磊,宋玉娥.先天性中枢性低通气综合征1例[J].智慧健康,2021,7(11):104-105. 被引量:1
-
2许志飞,贾鑫磊,白萍,申昆玲.无创通气治疗中枢性低通气综合征一例随访观察及文献复习[J].中华儿科杂志,2014,52(2):117-121. 被引量:4
-
3许志飞,申昆玲.儿童低通气综合征[J].中华实用儿科临床杂志,2014,29(4):251-254. 被引量:5
-
4梅枚,杨琳,詹国栋,樊子川,孙碧君,曹云,程国强,周文浩.新生儿先天性中枢性低通气综合征二例基因型和表型的关联[J].中华围产医学杂志,2014,17(10):652-656. 被引量:3
-
5许志飞,李蓓,张亚梅,申昆玲.无创通气治疗儿童阻塞性睡眠呼吸障碍[J].中华实用儿科临床杂志,2015,30(4):250-253. 被引量:13
-
6陈竹,余静,赵荣香,刘蓉,吴勇.儿童迟发性中枢性低通气综合征一例[J].中国小儿急救医学,2016,23(8):571-574. 被引量:1
-
7赵芳萍,石静云.先天性中枢性低通气综合征的研究进展[J].中国小儿急救医学,2016,23(12):852-855. 被引量:2
-
8许志飞.先天性中枢性低通气综合征的诊断与治疗进展[J].中华实用儿科临床杂志,2018,33(4):273-276. 被引量:11
-
9李晓莺,郎玉洁,刘晨,张开慧.先天性中枢性低通气综合征四例[J].中华新生儿科杂志(中英文),2018,33(4):262-265. 被引量:5
-
10张漪,彭斯聪,付佳敏,黄青,刘红艳.先天性中枢性低通气综合征五例[J].中华新生儿科杂志(中英文),2020,35(3):207-210. 被引量:7
同被引文献19
-
1许志飞,江载芳.先天性中枢性低通气综合征一例[J].中华儿科杂志,2005,43(8):636-637. 被引量:12
-
2王慧欣,何建平,许志飞.先天性中枢性低通气综合征一例[J].中国新生儿科杂志,2007,22(4):246-246. 被引量:3
-
3董红红,李彦敏,王娜.先天性中枢性低通气综合征1例[J].临床荟萃,2008,23(7):518-518. 被引量:2
-
4陆玲,周伟,卢伟能,赖剑蒲,张喆.先天性中枢性低通气综合征5例临床研究[J].中国实用儿科杂志,2008,23(7):538-540. 被引量:12
-
5张承芳,陈晓云,孟庆美,王绪栋.先天性中枢性低通气综合征一例[J].山西医药杂志(下半月),2009,38(3):288-288. 被引量:2
-
6游楚明,傅万海,张晓,陆榕嘉,黄勤.先天性中枢性低通气综合征1例[J].中国当代儿科杂志,2009,11(6):498-499. 被引量:2
-
7袁琳,陈超.自主呼吸减弱 高碳酸血症[J].中国小儿急救医学,2013,20(2):211-212. 被引量:1
-
8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. 被引量:8
-
9李秋平,刘敬,何玺玉,杨尧,韩涛,梁婧,封志纯.成功救治新生儿先天性中枢性低通气综合征1例报告[J].临床儿科杂志,2013,31(6):592-593. 被引量:12
-
10韩涛,邓亚玲,杨尧,李秋平,梁婧,杨常栓,尹晓娟.先天性中枢性低通气综合征四例临床研究[J].中国小儿急救医学,2013,20(6):606-609. 被引量:5
引证文献2
-
1葛琪琦,郭晓婷,杨坤,周磊磊,宋玉娥.先天性中枢性低通气综合征1例[J].智慧健康,2021,7(11):104-105. 被引量:1
-
2仇书要,杨李强,钟建文,罗向前,刘大波.儿童迟发型先天性中枢性低通气综合征2例[J].临床耳鼻咽喉头颈外科杂志,2023,37(8):656-657. 被引量:1
-
1过度疲劳可患多动症[J].养生月刊,2003,24(5):239-239.
-
2李玉岭,闫国庆.急性脑卒中合并睡眠障碍的临床分析[J].中西医结合心脑血管病杂志,2006,4(9):832-833. 被引量:3
-
3王慧欣,何建平,许志飞.先天性中枢性低通气综合征一例[J].中国新生儿科杂志,2007,22(4):246-246. 被引量:3
-
4王好成.CPAP对缺血性脑血管病合并OSAHS患者血液流变学及脑血流速度的影响[J].中国实用神经疾病杂志,2015,18(18):26-27. 被引量:4
-
5詹宇婷,汪美霞,陶长绣.阻塞性睡眠呼吸暂停综合征发病机制研究[J].中医药临床杂志,2015,27(12):1658-1660. 被引量:14
-
6徐素珍,唐芳.睡眠监测脑电图在癫痫患者中诊断价值[J].医学临床研究,2013,30(9):1835-1836.
-
7曾文双,邓远飞,乔珊,孙艳荪.CPAP治疗对脑梗死恢复期合并OSAHS患者血浆同型半胱氨酸水平的影响[J].卒中与神经疾病,2016,23(2):126-128. 被引量:11
-
8王火,殷兴艳.阻塞性睡眠呼吸暂停综合征与糖耐量异常1例[J].武警医学院学报,2011,20(4):308-308. 被引量:3
-
9张晓斌,刘芳芳,拾景强,张德贵.102例多导睡眠监测数据分析[J].中国医药导刊,2004,6(6):398-399. 被引量:1
-
10许志飞,江载芳.先天性中枢性低通气综合征一例[J].中华儿科杂志,2005,43(8):636-637. 被引量:12