期刊文献+

先天性中枢性低通气综合征的研究进展 被引量:3

原文传递
导出
摘要 先天性中枢性低通气综合征(congenital central hypoventilation syndrome,CCHS),也称Ondine's curse,是一类自出生即存在的呼吸自主控制障碍。由于机体对高碳酸血症和低氧血症的敏感性降低或缺失,从而导致通气反馈控制障碍,临床表现为新生儿期发生的觉醒状态下通气充足,而睡眠时出现严重的、甚至致命性的肺泡低通气,需要机械通气支持;严重病例睡眠和觉醒状态都需要通气支持。
作者 钱甜 曹云
出处 《中华儿科杂志》 CAS CSCD 北大核心 2007年第10期755-759,共5页 Chinese Journal of Pediatrics
  • 相关文献

参考文献23

  • 1Trang H, Dehan M, Beaufils F, et al. The french congenital central hypoventilation syndrome registry: general data, phenotype, and genotype. Chest, 2005, 127: 72-79.
  • 2Bajaj R, Smith J, Trochet D, et al. Congenital central hypoventilation syndrome and Hirsehsprung' s disease in an extremely preterm infant. Pediatrics, 2005, 115:e737-e738
  • 3Verloes A, Elmer C, Lacombe D, et al. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. Eur J Pediatr, 1993, 152: 75-77.
  • 4Sritippayawan S, Hamutcu R, Kun SS, et al. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Care Med, 2002, 166: 367-369.
  • 5Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet, 2003, 33: 459-461.
  • 6Trochet D, O' Brien LM, Gozal D, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet, 2005, 76: 421- 426.
  • 7Spengler CM, Gozal D, Shea SA. Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome. Respimt Physiol, 2001, 129: 247-255.
  • 8Woo MA, Macey PM, Macey KE, et al. FMRI responses to hyperoxia in congenital central hypoventilation syndrome. Pediat Res, 2005, 57: 510-518.
  • 9Macey PM, Macey KE, Woo MA, et al. Aberrant neural responses to cold pressor challenges in congenital central hypoventilation syndrome. Pediat Res, 2005, 57: 500-509.
  • 10Kumar R, Macey PM, Woo MA, et al. Neuroanatomic deficits in congenital central hypoventilation syndrome. J Comp Neuro, 2005, 487 : 361-371.

二级参考文献33

  • 1Mellins RB, Balfour HH Jr, Turino Gin, et al. Failure of automatic control of ventilation (Ondine' s curse). Report of an infant born with this syndrome and review of the literature[J]. Medicine(Baltimore), 1970, 49 ( 6 ) :487-504.
  • 2Croaker GDH, Shl E, Simpson E, et al. Congenital centnd hypoventilaion syndrome and Hirschsprung' s disease [J]. Arch Dis Child, 1998, 78: 316- 322.
  • 3Sakai T, Wakizaka A, Matsuda H, et al. Point mutation in exon 12 of the receptor tyrosine klnase proto-oncogene RET in Ondine-Hirschsprung syndrome[J]. Pediatr, 1998, 101: 924-926.
  • 4Burton MD, Kawashima A, Brayer JA, et al. RET proto-oncogene is important for the development of respiratory CO2 sensitivity [J]. Autonomic Nerv Syst, 1997, 63:137-143.
  • 5Bolk S, Angrist M, Xie J, et al, Endothelin-3 frarneshift mutation in congenital central hypoventilation syndrome[J]. Nat Genet, 1996, 13:395 - 396.
  • 6Shirasawa S Arata A, Onimare H, et al. Rnx deficiency results in congenital central hypoventilation [ J ], Nat Genet, 2000, 24 (3) : 287-290.
  • 7Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventiliation syndrome[J] .Am J Med Genet, 2001, 100(3) :237-245.
  • 8Sritippayaman S, Hamutcu R, Kun SS, et al. Mother-daughter transmission of congenital central hypoventilation syndrome[J]. Am J Respir Crit Care. Med, 2002; 166(3) :367-369.
  • 9Folgering HF, Kille JF, Primary alveolar hypoventilation ( Ondine's curse syndrome)in an infant without external arcuate nucleus: case report [J]. Bull Eur Physilpathol. Respir, 1979, 15:659-665.
  • 10Fleming P J, Cade D, Bryan M H, et al. Congential central hypoventilation and sleep state [J]. Pediatr, 1980, 66:425- 428.

共引文献29

同被引文献39

  • 1黄如训.延脑梗死继发Ondine's curse综合征[J].中国神经精神疾病杂志,2004,30(6):419-422. 被引量:14
  • 2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
  • 3陈灏珠,林果为,王吉耀.实用内科学.第14版.北京:人民卫生出版社,2013:2600-2610.
  • 4Javaheri S.Central sleep apnea[].Clinics in Chest Medicine.2010
  • 5Javaheri S.Central sleep apnea[].Sleep medicine essentials.2009
  • 6Plum F.Breathing is controlled independently by voluntary, emotional, and metabolically related pathways[].Archives of Neurology.1992
  • 7Vingerhoets F,Bogousslavsky J.Respiratory dysfunction[].Stroke syndromes.2001
  • 8Takehara M,Ishikawa K,Hiroi T, et al.Central type of sleep apnea syndrome caused by unilateral lateral medullary infarction[].Rinsho Shinkeiga.1992
  • 9Van Euler C,Marttila I,Remmers JE,hppenbach T.Effects of lesions on the parabrachialis nucleus on the mechanisms for central and reflex termination of inspiration in the cat[].Acta Physiologica Scandinavica.1976
  • 10.Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society[].American Journal of Respiratory and Critical Care Medicine.1999

引证文献3

二级引证文献4

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部