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常见遗传性肾脏疾病的主要临床特点及诊断 被引量：1

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摘要 遗传性肾脏疾病包含的范围较广,而且没有统一的分类。主要有肾脏囊性疾病、遗传性肾小球疾病、遗传性肾小管疾病及结石相关性肾脏疾病等,大多数遗传性肾脏疾病不仅可以通过临床、生化试验、病理检查得到初步诊断,而且这些疾病大多数的基因位点缺陷已经清楚,可以通过基因分析确诊。
作者 卢宏柱 樊启红 刘丹 周建华
机构地区 长江大学临床医学院 长江大学附属第一医院儿科 华中科技大学同济医院儿科
出处 《中国全科医学》 CAS CSCD 北大核心 2010年第23期2642-2646,共5页 Chinese General Practice
关键词 遗传 多囊肾疾病 肾小球 肾小管 ALPORT综合征
分类号 R692 [医药卫生—泌尿科学]
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参考文献13

  • 1Mochizuki T,Wu G,Hayashi T,et al.PKD2,a gene for polycystic kidney disease that encodes an integral membrane protein[J].Science,1996,272(5266):1339-1342.
  • 2Morgan SH,Grünfeld JP.Inherited disorders of the kidney[M].Oxford.New York:Tokyo Oxford University Press,1998:105-611.
  • 3王海燕.肾脏病学[M].2版.北京:人民卫生出版社,2001:617-617.
  • 4Mazzucco G,DeMarchi M,Monga G.Renal biopsy interpretation in Alport syndrome[J].Semiin Diagn Pathol,2002,19(3):133-145.
  • 5Gregory MC.Alport syndrome and thin basement membrane nephropathy:inraveling the tangled strands of type Ⅳ collagen[J].Kidney Int,2004,65:1109-1110.
  • 6Menezes LF,Onuchic LF.Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease[J].Braz J Med Biol Res,2006,39(12) 1537-1548.
  • 7Kashtan CE.Familial hematuria due to type IV collagen mutations:Alport syndrome and thin basement membrane nephropathy[J].Curr Opin Pediatr,2004,16:177-181.
  • 8Tryggvason K,Patrakka J.Thin basement membrane disease[J].J Am Soc Nephrol,2006,17:813-822.
  • 9Holder M,Bald M,Leichter HE,et al.Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient[J].Pediatr Nephrol,2004,19:122.
  • 10Ludwig M,Utsch B,Balluch B.Hypercalciuria in patients with CLCN5 mutations[J].Pediatr Nephrol,2006,21:1241-1250.

二级参考文献27

  • 1[1]Scheinman S J, Guay-Woodford LM, Thakker RV, et al. Genetic disorders of renal electrolyte transport. The New England J of Med,1999, 340( 15):1177
  • 2[2]Karet FE. Monogenic tubular salt and acid transporter disorders. J Nephrol, 2002, 15(Suppl 6):S57
  • 3[3]Chen HI, Sudol M. The WWdornain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modules. Proc Natl Acad Sci USA, 1995, 92:7819
  • 4[4]Snyder PM. The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension. Endocrine reviews,2002, 23 (2):258
  • 5[5]Volk KA, Husted RF, Snyder PM, et al. Kinase regulation of hENaC mediated through a region in the COOH-terminal portion of the subunit. Am J Physiol, 2000, 78:C1047
  • 6[6]Karolyi L, Koch M.C, Karl-Heinz Grzeschik, et al. The molecular genetic approach to "Bartter's syndrome". J Molecular Med, 1998,76(5):317
  • 7[7]Schwarz I, Alon U. Bartter syndrome revisited. J Nephrol, 1996,9:81
  • 8[8]Konrad M, Vollmer M, Lemmink H.H.+ Mutations in the chloride channel gene CLCNKB as a cause of classic bartter syndrome. Am Soc Nephrol, 2000, 11:1449
  • 9[9]Pearce SHS. Straightening out the renal tubule:advances in the molecular basis of the inherited tubulopathies. O J Med, 1998, 91:5
  • 10[10]Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell, 2001, 104(23) :545

共引文献29

同被引文献17

  • 1Imai E, Horio M, Watanabe T et al. Prevalence of chronic kidney disease in the Japanese general population. Clin Exp Nephrol 2009; 13:621 -630. 366.
  • 2Timothy H Mathew, Olivia Corso, Marie Ludlow,et al Screening for chronic kidney disease in Australia - Multiple Choices [ J ]. Kidney International ,2010,77 (Suppl 116), $9- S16.
  • 3Executive summary: standards of medical care in diabetes - - 2009 [J]. Diabetes Care. 2009 Jan;32 Suppl 1 :$6 - 12. doi: 10. 2337/ dc09 - S006.
  • 4Grundy SM, Cleeman JI, Merz CN, et al, the Coordinating Commit- tee of the National Cholesterol Education Program. Implications of re- cent clinical trials for the National Cholesterol Education Program A- dult Treatment Panel III Guidelines[ J]. J Am Coil Cardiol. 2004; 44 (3) :720 -732.
  • 5Levcy AS,Eckardt KU, Tsukamoto Y, et al. Definition and classifica- tion of chronic kidney disease: a position statement from Kidney Dis- ease: Improving Global Outcomes ( KDIGO ). Kidney Int, 2005,67 : 2089 - 2100.
  • 6Stevens PE, ODonaghue DJ, de Lusignan S,et al. Chronic kidney disease management in the United Kingdom: NEOERICA project re- suits[ J~. Kidney Int 2007, 72( 1 ) :92 -99.
  • 7Nielsen, S, Schmltz, A, Rehling, M,et al. The clinical course ofrenal function in NIDDM patients with nonno - and micmalbumin- uria[J]. J Intern Med 1997; 241(2) : 133 -141.
  • 8Johnson R J, Kang DH, Feig D, et al. Is there a pathogenetic role for uric acid in hypertension and cardiovascular and renal disease[J].Hypertension 2003 ;41 (6) : 1183 - 1190.
  • 9孙丽荣.痛风的诊断与治疗[J].国际内分泌代谢杂志,2007,27(6):430-432. 被引量：11
  • 10李佳,王宗谦.慢性肾脏病的流行病学研究进展[J].中国慢性病预防与控制,2009,17(2):214-217. 被引量：20

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中国全科医学
2010年 第23期

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