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结节性硬化症临床研究

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Author:: No author available

Journal Title:: FOREIGN MEDICAL SCIENCES(SECTION OF DERMATOLOGY AND VENEREOLOGY)

Issue:: 2

DOI:: 10.3760/cma.j.issn.1673-4173.2005.02.010

Key Word:: 结节性硬化症;诊断;皮肤表现

Abstract：结节性硬化症是以错构瘤为主要表现的累及多个系统和器官的常染色体显性遗传性疾病.临床表现多样,最常累及的是皮肤、神经系统和肾脏,表现为色素减退斑、面部血管纤维瘤、鲨革样斑、癫痫、智力障碍、肾血管肌脂肪瘤、多囊肾等,严重者可出现肾功能衰竭、呼吸衰竭、心律失常、大出血等导致死亡.目前结节性硬化症仍主要根据其临床表现来诊断.

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