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先天性肺表面物质功能障碍疾病 被引量:3

Congenital surfactant dysfunction disorders
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摘要 先天性肺表面物质功能障碍疾病(surfactant dysfunc-tion disorders)又称先天性肺表面物质代谢缺陷(Inborn er-rors of surfactant metabolism,IESM),主要指SP-B基因(SFTPB)、SP-C基因(SFTPC)、ABCA3基因(ABCA3)、甲状腺转录因子-1基因(NKX2.1)和粒细胞-巨噬细胞集落刺激因子受体基因(GMCSFR)的突变或缺失导致的一类疾病。这类疾病目前被认为是儿童弥漫性间质性肺疾病的重要原因。其发病年龄和严重程度变化很大,从引起足月新生儿致死性呼吸窘迫综合征,到婴儿期、儿童期和成年人的弥漫性肺间质疾病,甚至到成年人出现肺纤维化。 Congenital surfactant dysfunction disorders(SDD)or inborn errors of surfactant metabolism(IESM)include themutations in the genes encoding the surfactant proteins B(SFTPB),surfactant protein C(SFTPC),the ATP-bindingcassette transporter A3(ABCA3),the thyroid transcriptionfactor 1(NKX2.1),and the receptor for granulocyte-macro-phage colony stimulating factor(GMCSFR). These disordershave now been recognized as the important etiology for diffuseinterstitial lung disease(ILD)in children. The age of onsetand severity of these disorders are highly varied. The presentation ranges from fatal RDS in full-term infants to ILD in olderinfants,children,and even adults.
作者 郑跃杰
出处 《中国实用儿科杂志》 CSCD 北大核心 2014年第12期883-885,共3页 Chinese Journal of Practical Pediatrics
关键词 肺表面物质 间质性肺疾病 儿童 surfactant interstitial lung disease children
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参考文献13

  • 1Popler J,Lesnick B,Dishop MK,et al. New coding in the inter-national classification of diseases,ninth revision, for children'sinterstitial lung disease [J]. Chest, 2012,142(3) :774-780.
  • 2Nogee LM, de Mello DE, Dehner LP, et al. Brief report: defi-ciency of pulmonary surfactant protein B in congenital alveolarproteinosis[j]. N Engl J Med, 1993,328(6) :406-410.
  • 3Dishop MK. Diagnostic pathology of diffuse lung disease in children[j]. Pediatr Allergy Immunol Pulmonol,2010,23(1) :69-85.
  • 4Doan ML, Guillerman RP, Dishop MK, et al. Clinical,radiolog-ical and pathological features of ABCA3 mutations in chil-dren [ J ]. Thorax, 2008, 63(4): 366-373.
  • 5徐秀娟,刘恩梅,罗征秀,罗健,符州.ABCA3杂合突变病例临床分析[J].中华儿科杂志,2014,52(4):244-247. 被引量:7
  • 6Brasch F, Griese M,Tredano M, et al. Interstitial lung diseasein a baby with a de novo mutation in the SFTPC gene [J]. EurRespir J, 2004, 24(1): 30-39.
  • 7Percopo S, Cameron HS, Nogee LM, et al. Variable phenotypeassociated with SP-C gene mutations : fatal case with the I73Tmutation [J]. Eur Respir J, 2004, 24(6): 1072-1073.
  • 8朱春梅,曹玲,黄荣妍,王亚军,邹继珍,袁新宇,宋昉,陈慧中.肺表面活性蛋白基因突变相关性婴幼儿肺间质疾病一例报告并文献复习[J].中华儿科杂志,2013,51(2):84-89. 被引量:18
  • 9黄莉,王美娟,陈正荣,严永东,张新星,郑跃杰,陈慧中,季伟.肺表面活性物质蛋白C基因I73T突变相关性婴幼儿肺间质疾病一例并文献复习[J].中华儿科杂志,2014,52(11):846-850. 被引量:13
  • 10Iwatani N,Mabe H, Devriendt K, et al. Deletion of NKX2.1gene encoding thyroid transcription factor-1 in two siblingswith hypothyroidism and respiratory failure [J]. J Pediatr,2000,137(2): 272-276.

二级参考文献53

  • 1中华医学会儿科学分会呼吸学组全国儿童弥漫性实质性肺疾病/间质性肺疾病协作组.小儿间质性肺疾病14例临床-影像-病理诊断分析[J].中华儿科杂志,2011,49:92-97.
  • 2Cameron HS, Somaschini M, Carrera P, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr, 2005, 146:370-375.
  • 3Clement A , Nathan NE, Epaud R, et al. Interstitial lung diseases in children. Ovphanet J Rare Dis, 2010, 5:22.
  • 4Nogee LM. Genetic basis of children's interstitial lung disease. Pediatr Allergy Immunol Pulmonol, 2010, 23:15-19.
  • 5Deutsch GH, Young LR, Deterding RR, et al. Diffuse lung disease in young children application of a novel classification scheme. Am J Respir Crit Care Med, 2007, 176:1120-1128.
  • 6Hartl D, Griese M. Interstitial lung disease in children - genetic background and associated phenotypes. Respir Res, 2005, 6:32.
  • 7Selman M, Hung ML, Montano M. Surfactant protein A and B genetic variants predispose to idiopathic pulmonm'y fibrosis. Hum Genet, 2003, 113:542-550.
  • 8Stevens PA, Pettenazzo A, Brasch F. Nonspecific interstitial pneumonia, alveolar proteinosis and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene Pediatr Res, 2005,57:89-98.
  • 9Brasch F, Griese M, Tredano MZ , et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J , 2004, 24:30-39.
  • 10Tredano M, Griese M, Brasch F, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A, 2004, 126A:18-26.

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