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常染色体隐性遗传性多囊肾病-Ⅰ型猝死1例 被引量:2

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摘要 常染色体隐性遗传性多囊肾病(autosomal recessive polycystic kidney disease,ARPKD),以往多称为婴儿型多囊肾病(infantile polycystic kidney disease,IPKD),是一种少见的肾脏和肝内胆管的遗传性畸形综合征[1]。……
出处 《中国法医学杂志》 CSCD 2003年第3期178-180,共3页 Chinese Journal of Forensic Medicine
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参考文献6

  • 1董郡.病理学[M].第2版.北京:人民卫生出版社,1992.661
  • 2Blyth H., Ockenden BG. Polycystic disease of kidney and liver presenting in childhood [J]. J Med Genet, 1971, 8:257
  • 3Zerres K, Muoher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen, nt [J]. Genet, 1994, 7:429
  • 4梁娟,缪蕾,王艳萍,朱军,肖坤则.我国婴儿型Ⅰ型多囊肾病(IPKD—Ⅰ型)调查分析[J].华西医学,1999,14(4):488-489. 被引量:2
  • 5同济医科大学 中山医科大学病理学教研室.外科病理学[M].第2版[M].武汉:湖北科学技术出版社,1999.100.
  • 6Joel MS, Mark WB, Michael EM. Aggressive surgical and medical management of autosoma recessive polycystic kidney disease (ARPKD) [J]. Pediatr Urolo, 1993, 42 (3): 309

共引文献3

同被引文献22

  • 1刘文彬,李文杰,王红.新生儿多囊肾伴多发性畸形1例[J].西南军医,2005,7(5):88-88. 被引量:1
  • 2窦蕾,刘素云.婴儿多囊肾的一例报告[J].中国优生与遗传杂志,2007,15(1):119-119. 被引量:2
  • 3汪庆玲,徐虹,张玉娟.小儿多囊肾19例临床分析[J].临床儿科杂志,2007,25(2):119-120. 被引量:4
  • 4高洁锦,董磊,钱燕,王凯.常染色体隐性遗传性多囊肾伴先天性肺发育不全一例[J].中国新生儿科杂志,2007,22(3):177-178. 被引量:2
  • 5邵肖梅,叶鸿瑁,丘小汕.实用新生儿学.第4版.北京:人民卫生出版社,2011:871-872.
  • 6Prelog M,Bergmann C,Ausserlechner MJ,et al.Successful transplantation in a child with rapid progression autosomal recessive polycystic kidney disease associated with a novel mutation.Pediatr Transplant,2006,10:362-366.
  • 7Liu YP,Cheng SJ,Shih SL,et al.Autosomal recessive polycystic kidney disease:appearance on fetal MRI.Pediatr Radiol,2006,36:169.
  • 8Ward CJ,Hogan MC,Rossetti S,et al.The gene mutated in autosomal recessive polycystic kidney diseases encodes a large,receptor-like protein.Nat Genet,2002,30:259-269.
  • 9Onuchic LF,Furu L,Nagasawa Y,et al.PKHD1,the polycystic kidney and hepatic disease 1 gene,encodes a novel large protein containing multiple immunoglobulin-like plexin-transcriptionfactor domains and parallel beta-helix 1 repeats.Am J Hum Genet,2002,70:1305-1117.
  • 10刘淑平,丁洁.常染色体隐性遗传性多囊肾病:肾脏和肝脏病变.儿科学大查房,2014,3:29-33.

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