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肾衰竭与耳聋:鳃耳肾综合征

Renal failure and deafness: branchio-oto-renal syndrome.

作者信息

Misra M, Nolph K D

机构信息

Division of Nephrology, University of Missouri Health Sciences Center, Columbia 65212, USA.

出版信息

Am J Kidney Dis. 1998 Aug;32(2):334-7. doi: 10.1053/ajkd.1998.v32.pm9708623.

Abstract

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant condition that may present with hearing loss, branchial cysts, and renal failure. The characteristic phenotypic expression of the full syndrome may be partial or complete, and a whole range of renal abnormalities may be present. Its similarity to Alport's syndrome may lead to misdiagnosis. We report here a case of adult-onset renal failure in a 44-year-old white man previously believed to have Alport's syndrome and a review the relevant literature.

摘要

鳃-耳-肾(BOR)综合征是一种罕见的常染色体显性遗传病,可表现为听力丧失、鳃裂囊肿和肾衰竭。完全型综合征的典型表型表达可能是部分或完全的,并且可能存在一系列肾脏异常。它与阿尔波特综合征的相似性可能导致误诊。我们在此报告一例44岁白人成年男性发生的肾衰竭病例,该患者此前被认为患有阿尔波特综合征,并对相关文献进行综述。

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