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尼曼-匹克病一例 被引量:1

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摘要 患儿女,2岁。因腹部膨隆1年就诊。体检:发育正常,神志清,精神反应可,心肺听诊无异常,腹膨隆,可触及肝脾肿大。神经系统体检无异常。血常规:WBC 6.15×109/L,RBC 5.33×109/L,HB126g/L,PLT 149×109/L。影像学检查:胸部平片示双肺野透过度减低,双肺弥漫分布粟粒状致密影(图1)。胸部CT示双肺弥漫性网织结节状影(图2)。
出处 《临床放射学杂志》 CSCD 北大核心 2015年第10期1702-1702,共1页 Journal of Clinical Radiology
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  • 1Huseyin Ozkurt, Guzide Toksoy, Muzaffer Basak. Radiologic, al Find- ings of Pulmonary Involvement of Type B Niemann-Pick Disease [ J ]. Arch Bronconeumol, 2010,6 : 206-212.
  • 2邹华新,张宏伟,曹慧,王冬琴,张翔,禚保彪.B型尼曼-匹克病一例[J].中华小儿外科杂志,2012,33(6):476-477. 被引量:7
  • 3Simpson WI,, Mendelson D, Wasserstein M ,et al. Imaging Manifesta- tions of Niemann-Pick Disease Type B [ J ]. AJR, 2010, 194 : W12- 19..

二级参考文献11

  • 1Alizon C, Beueher AB, Gourdier AL, et al. Type B Niemann Pick disease., clinical description of three patients in a same family. Rev Med Interne, 2010,31 (8):562-565.
  • 2Kolodny EH. Niemann-Pick disease. Curr Opin Hematol, 2000,7(1) :48-52.
  • 3Iturriaga C, Pineda M, Femdndez-Valero EM, et al. Niemann- Pick C disease in Spain: Clinical spectrum and development of a disability scale. J Neurol Sci, 2006,249 (1) : 1-6.
  • 4胡亚美,吴瑞萍,江载芬.诸福棠实用儿科学[M].第六版.北京:人民卫生出版社,1996.2114—2116.
  • 5Ries M, Schaefer E, Luhrs T, et al. Critical assessment of chito- triosidase analysis in the rational laboratory diagnosis of chil- dren with Gaucher disease and Niemann-Pick disease type A/B and C. Inherit Metab Dis, 2006,29(5):647-652.
  • 6McGovem MM, Wasserstein MP, Giugliani R, et al. A prospec- tive, cross-sectional survey study on the natural history of Nie- mann-Pick disease type B. Pediatrics,2008, 122(2) :341-349.
  • 7Ghavamzadeh A, Alimoghaddam K, Jahani M, etal. Stem ceil transplantation; Iranian experience. Arch Iran Med, 2009, 12 (1) : 69-72.
  • 8Dodge JC, Clarke J, Treleaven CM, et al. Intracere broventricu- lar infusion of acid sphingomye linase corrects CNS manifesta- tions in a mouse model of Niemann-Piek A disease. Exp Neu- rol,2009,215 (2) :349-357.
  • 9Patterson MC,Vecchoio D,Prady H,et al. Miglustat for treat- ment of Niemann-Piek disease a randomised controlled study. Lancet Neurol, 2007,6 (9):765-772.
  • 10Rodfiguez-Pascau L,CoI1MJ,Vilageliu L, et al. Antissense oli- gonueleotide treatment for a pseudoexon- gener-ating mutation in the NPC1 gene causing Niemann-Pick type C disease. Hum Mutat,2009,30(11) :993-1001.

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