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结节性硬化症相关肾血管平滑肌脂肪瘤诊治专家共识 被引量:27

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摘要 一、结节性硬化症的概念与发病机制结节性硬化症(tuberous sclerosis complex,TSC)是一种以全身多器官血管平滑肌脂肪瘤(angiomyolipomas,AML)病变为特征的常染色体显性遗传性疾病。TSC几乎可以累及人体所有的器官和系统,最常见的是皮肤、脑、肾脏、肺和心脏的良性肿瘤,由于正常实质被多种类型细胞结构所替代,导致相应器官或系统出现功能障碍。
出处 《中华泌尿外科杂志》 CAS CSCD 北大核心 2017年第5期321-325,共5页 Chinese Journal of Urology
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  • 1曾莉,龚学德,黄鲁刚.结节性硬化症伴发右肾巨大血管平滑肌脂肪瘤一例[J].中华小儿外科杂志,2007,28(5):274-276. 被引量:2
  • 2Osborne JP,Fryer A,Webb D.Epidemiology of tuberous sclerosis[J].Ann N Y Acad Sci,1991,615:125-127.
  • 3Sampson JR,Scahill SJ,Stephenson JB,et al.Genetic aspects of tuberous sclerosis in the west of Scotland[J].J Med Genet,1989,26:28-31.
  • 4Curatolo P,Bombardieri R,Jozwiak S.Tuberous sclerosis[J].Lancet,2008,372:657-668.
  • 5Northrup H,Krueger DA.Tuberous sclerosis complex diagnostic criteria update:recommendations of the 2012 international tuberous sclerosis complex consensus conference[J].Pediatr Neurol,2013,49:243-254.
  • 6Dabora SL,Jozwiak S,Franz DN,et al.Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2,compared with TSC1,disease in multiple organs[J].Am J Hum Genet,2001,68:64-80.
  • 7Khallouk A,Ahallal Y,Doublali M,et al.Concurrent bilateral renal angiomyolipoma and renal cell carcinoma in a patient with tuberous sclerosis complex[J].Rev Urol,2009,11:216-218.
  • 8Rakowski SK,Winterkorn EB,Paul E,et al.Renal manifestations of tuberous sclerosis complex:incidence,prognosis,and predictive factors[J].Kidney Int,2006,70:1777-1782.
  • 9Yamakado K,Tanaka N,Nakagawa T,et al.Renal angiomyolipoma:relationships between tumor size,aneurysm formation,and rupture[J].Radiology,2002,225:78-82.
  • 10Crino PB,Nathanson KL,Henske EP.The tuberous sclerosis complex[J].N Engl J Med,2006,355:1345-1356.

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