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二磷酸盐治疗婴儿特发性动脉钙化症 被引量：2

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摘要 患儿，男，G1P3，孕38^＋4周因宫内窘迫无产兆剖宫产，生后26h因精神弱入院。入院时血压75／37mmHg（1mmHg=0．133kPa），精神弱，呼吸促，口周微绀，双肺呼吸音粗，可闻及痰呜音，心音有力，律齐，心前区可闻及Ⅱ／Ⅵ级杂音，腹软，肝肋下4cm，剑下4．5cm。
作者 李晓卿 王丽靖 顾艳敏 杨宝昌
机构地区 天津市儿童医院ICU
出处 《中国小儿急救医学》 CAS 2014年第1期54-55,共2页 Chinese Pediatric Emergency Medicine
关键词 二磷酸盐 钙化症 特发性 动脉 婴儿 治疗 肺呼吸音 宫内窘迫
分类号 R725.4 [医药卫生—儿科]
  • 相关文献

参考文献9

  • 1Ruf N,Uhlenberg B,Terkeltaub R. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)[J].{H}Human Mutation,2005,(1):98.
  • 2Ciana G,Trappan A,Bembi B. Generalized arterial calcification of infancy:Two siblings with prolonged survival[J].{H}European Journal of Pediatrics,2006,(4):258-263.
  • 3Rutsch F,Schauerte P,Kalhoffi H. Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification[J].{H}Acta Paediatrica,2000,(10):1265-1269.
  • 4谢宗德,盖建芳,李雯.特发性婴儿动脉钙化症一例[J].中华儿科杂志,2008,46(5):395-396. 被引量：5
  • 5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
  • 6Chong CR,Hutchins GM. Idiopathic infantile arterial calcification:the spectrum of clinical presentations[J].Pediatr Dev Patho1,2008,(5):405-415.
  • 7Ramjan KA,Roscioli T,Rutsch F. Generalized arterial calcification of infancy:treatment with bisphosphonates[J].{H}ENDOCRINOLOGY AND METABOLISM,2009,(3):167-172.
  • 8Rutsch F,B(o)yer P,Nitschke Y. Hypophosphatemia,hyperphosphaturia,and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy[J].Circ Cardiovasc Genet,2008,(2):133-140.
  • 9van der Slusis IM,Boot AM,Vernooij M. Idiopathic infantile arterial calcification:clinical presentation,therapy and longterm folloe-up[J].{H}European Journal of Pediatrics,2006,(9):590-593.

二级参考文献11

  • 1Ciana G.,Trappan A.,Bembi B.,F.Rutsch,高蕊.婴儿广泛性动脉钙化症:存活期延长的两兄妹[J].世界核心医学期刊文摘（儿科学分册）,2006,2(8):38-39. 被引量：2
  • 2Glatz AC, Pawel BR, Hsu DT, et al. Idiopathic infantile arterial calcification : two case reports, a review of the lilemlure and a role for cardiac transplantation. Pediatr Transplant, 2006, 10: 225- 233.
  • 3Farquhar J, Makhseed N, Sargent M, et al. Idiopathic infantile arterial calcification and persistent pulmonary hypertension. Am J Perinatol, 2006, 22:121-125.
  • 4van der Sluis IM, Boot AM , Vernooij M, et al. Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr, 2006, 165 : 590-593.
  • 5Numakura C,Yamada M,Arlyasu D,et al. Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. J Bone Miner Metab, 2006, 24( 1 ) :48-52.
  • 6Samon LM,Ash KM,Murdison KA.Aorto-pulmonary calcification:an unusual manifestation of idiopathic calcification of infancy evident antenatally.Obstet Gynecol,1995,85(5 Pt 2):863-865.
  • 7Bellah RD,Zawodniak L,librizzi RJ,et al.Idiopathic arterial calcification of infancy:prenatal and postnatal effects of therapy in an infant.J Peditr,1992,121:930-933.
  • 8Sundaram S,Kuruvilla S,Thirupuram S.Idiopathic arterial calcification of infancy-a case report.Images Paediatr Cardiol,2004,18:6-12.
  • 9Vera J,Lucaya J,Garcia Conesa JA,et al.Idiopathic infantile arterial calcification:unusual features.Pediatr Radiol,1990,20:585-587.
  • 10Van Dyck M,Proesmans W,Van Hollebeke F,et al.Idiopathic infantile arterial calcification with cardiac,renal and central nervous system involvement.Eur J Pediatr,1989,148:374-377.

共引文献6

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.

引证文献2

二级引证文献3

中国小儿急救医学
2014年 第1期

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