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一种常染色体隐性遗传性肾病、耳聋和甲状旁腺功能亢进的新综合征。

A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism.

作者信息

Edwards B D, Patton M A, Dilly S A, Eastwood J B

机构信息

Department of Medicine, St. George's Hospital Medical School, London.

出版信息

J Med Genet. 1989 May;26(5):289-93. doi: 10.1136/jmg.26.5.289.

Abstract

A consanguineous Pakistani family is described in which family members developed renal failure without haematuria, parathyroid hyperplasia, and sensorineural deafness. We believe the condition to be inherited as an autosomal recessive and to be distinct from Alport's syndrome, which is an X linked condition usually associated with haematuria.

摘要

描述了一个巴基斯坦近亲家庭,其中家庭成员出现了肾衰竭,但无血尿、甲状旁腺增生和感音神经性耳聋。我们认为该病症为常染色体隐性遗传,且与奥尔波特综合征不同,后者是一种通常与血尿相关的X连锁病症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41a8/1015593/7e496567a071/jmedgene00055-0003-a.jpg

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