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线粒体相关肾病的诊断和治疗进展 被引量：3

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摘要 各种遗传缺陷导致的线粒体结构和功能异常可引发多系统能量代谢障碍，导致线粒体脑肌病。新近研究发现，多种线粒体基因或核基因的遗传缺陷引起的线粒体功能障碍还可导致肾脏病变，如线粒体DNA A3243G突变、
作者 管娜
机构地区 北京大学第一医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2014年第7期503-505,共3页 Chinese Journal of Pediatrics
基金 国家自然科学基金青年科学基金项目（81100502） 教育部新世纪优秀人才支持计划（NCET-12-0006）
关键词 线粒体结构 线粒体功能障碍 治疗 诊断 肾病 能量代谢障碍 线粒体脑肌病 线粒体DNA
分类号 R726.9 [医药卫生—儿科]
  • 相关文献

参考文献21

  • 1Hotta O, Inoue CN, Miyabayashi S, et al. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu (UUR) gene mutation [J]. Kidney Int, 2001, 59: 1236-1243.
  • 2Giier S, Talim B, Aan E, et al. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes[ J]. Pediatr Dev Pathol, 2005, 8:710-717.
  • 3Lopez LC, Schuelke M, Quinzii CM ,et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 ( PDSS2 ) mutations [ J ]. Am J Hum Genet, 2006, 79:1125-1129.
  • 4Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement[J]. J Am Soc Nephrol, 2007, 18:2773-2780.
  • 5Ashraf S, Gee HY, Woeruer S, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption[ J]. J Clin Invest, 2013, 123:5179-5189.
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  • 8Kobayashi A, Goto Y, Nagata M, et al. Granular swollen epithelial cells : a histologic and diagnostic marker for mitochondrial nephropathy[ J]. Am J Surg Pathol, 2010, 34:262- 270.
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  • 10谢红浪,许书添,何群鹏,杨柳,郭锦洲,桂兰兰,陈惠萍,刘志红.线粒体DNA突变合并肾脏损害[J].肾脏病与透析肾移植杂志,2012,21(6):519-523. 被引量：4

二级参考文献16

  • 1Hotta 0 ,Inoue CN,Miyabayashi S, et al. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int ,2001,59 (4) : 1236 - 1243.
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  • 6Emma F, Bertini E, Salviati L, et al. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol,2012,27 (4) :539 - 550.
  • 7Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev,2010,16(2) : 183 - 188.
  • 8Ipez LC, Schuelke M, Quinzii CM, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet,2006,79 (6) :1125 - 1129.
  • 9Heeringa SF,Chernin G, Chaki M, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest,2011 , 121 (5) :2013 - 2024.
  • 10Gu6ry B, Choukroun G, No.? 1 LH, et al. The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. J Am Soc Nephrol. 2003,14(8) :2099 -2108.

共引文献3

同被引文献19

  • 1邓江红,丁洁,管娜,苗鸿才,汤秀英.嘌呤霉素肾病鼠足突形态改变的形态计量学研究[J].中国体视学与图像分析,2003,8(1):9-15. 被引量：18
  • 2何伟春,杨俊伟.线粒体与足细胞的研究进展[J].中华肾脏病杂志,2007,23(1):61-63. 被引量：2
  • 3Tharaux P L, Huber T B. How many ways can a podo- cyte die? [J]. Seminars in Nephrology, 2012 , 32(4) : 394 - 404.
  • 4Hotta O, Inoue C N, Miyabayashi S, et al. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA Leu (UUR) gene mutation [ J]. Kidney International, 2001, 59(4):1236- 1243.
  • 5Zhu C, Xuan X, Che R, et al. Dysfunction of the PGC -lct - mitochondria axis confers adriamycin - in- duced podocyte injury [ J ]. American Journal of Physiolo- gy - Renal Physiology, 2014, 306(12) :1410 - 1417.
  • 6GtiCer S, Talim B, Asan E, et al. Focal segmental glomer- ulosclerosis associated with mitoehondrial eytopathy: report of two cases with special emphasis on podocytes [J]. Pedi- atric Developmnetal Pathology, 2005, 8 (6) :710 - 717.
  • 7Imasawa T, Rossignol R. Podocyte energy metabolism and glomerular diseases [ J]. The International Journal of Biochemistry and Cell, 2013, 45(9) :2109 -2118.
  • 8Dinour D, Mini S, Polak -Charcon S, et al. Progressive nephropathy associated with mitochondrial tRNA gene mu- tation[J]. Clinical Nephrology, 2004, 62(2) :149 -154.
  • 9Barisoni L, Madaio M P, Eraso M, et al. The kd/kd mouse is a model of collapsing glomerulopathy [ J]. Jour- nal of the American Society of Nephrology, 2005, 16 (10) :2847 -2851.
  • 10Markowitz G S, Appel G B, Fine P L, et al. Collapsing focal segmental glomerulosclerosis following treatment with high - dose pamidronate [ J ]. Journal of the Ameri- can Society Nephrology, 2001, 12(6) :1164 -1172.

引证文献3

二级引证文献11

中华儿科杂志
2014年 第7期

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