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特发性婴儿动脉钙化症一例 被引量:2

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摘要 患儿女,系第3胎第3产,胎龄34^+6周,产前彩超提示腹腔积液。因胎儿宫内窘迫、羊水过多行剖宫产。出生后Apgar评分:1min为3分,5min为7分。出生后患儿全身水肿,青紫,无自主呼吸,经气管插管和心肺复苏后呼吸机辅助呼吸转入新生儿科。患儿母亲35岁,体健,血型O型RH阳性;父亲37岁,体健,血型B型。该夫妻第1胎为一男婴,10岁时死于急性再生障碍性贫血。第2胎于孕6月时B超发现胎儿水肿而中止妊娠。
出处 《中华医学杂志》 CAS CSCD 北大核心 2008年第5期358-359,共2页 National Medical Journal of China
基金 湖南省自然科学基金资助项目(06JJ20013)
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参考文献5

  • 1Glatz AC, Pawel BR, Hsu DT,et al. Idiopathic infantile arterial calcification : two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant, 2006, 10 : 225- 233.
  • 2Eronen M, Pohjavuori M, Heikkila P. Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero. Pediatr Cardiol, 2001,22 : 167-169.
  • 3Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPPI are associated with ' idiopathic' infantile arterial calcification. Nat Genet, 2003, 34:379-381.
  • 4van der Sluis IM, Boot AM, Vernoonij M, et al. Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr, 2006, 165:590-593.
  • 5Whitehall J, Smith M, Altamirano L. Idiopathic infantile arterial calcification: sonographic findings. J Clin Ultrasound, 2003,31: 497 -501

同被引文献15

  • 1程蓉,许伟青,汪洁云.新生儿特发性动脉钙化症伴腔内血栓形成一例[J].中华围产医学杂志,2007,10(1):63-63. 被引量:7
  • 2Ruf N, Uhlenberg B, Terkeltaub R, et al. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) [J]. Hum Murat, 2005,25: 98.
  • 3HUNT AC,LEYS DG. Generalized arterial calcification of infancy [J]. Br Med J, 1957,1 : 385-386.
  • 4Nitschke Y, Rutsch F. Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin[J]. Front Genet, 2012,3: 302.
  • 5Guimares S, Lopes JM, Oliveira JB, et al. Idiopathic infantile arterial calcification: a rare cause of sudden unexpected death in childhood[ Jl. Patholog Res Int, 2010, 2010: 185314.
  • 6Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with ' idiopathic ' infantile arterial calcification [ J ]. Nat Genet, 2003,34: 379-381.
  • 7Li Q, Gun H, Chou DW, et al. Mutant Enpplasj mice as a model for generalized arterial calcification of infancy [ J ]. Dis Model Mech, 2013, 6: 1227-1235.
  • 8Li Q, Brodsky JL, Conlin LK, et al. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum [ J ]. J Invest Dermatol, 2014,134 : 658-665.
  • 9Chang CR, /-Iutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations [ J ]. Pediatr Dev Pathol, 2008,11 : 405-415.
  • 10Rutsch F, B6yer P, Nitschke Y, et al. Hypophosphatemia, hyperphospbaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy[J]. Circ Cardiovasc Genet, 2008,1: 133-140.

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