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一个患有显性特发性范科尼综合征的家族,该综合征在成年期会导致肾衰竭。

A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.

作者信息

Patrick A, Cameron J S, Ogg C S

出版信息

Clin Nephrol. 1981 Dec;16(6):289-92.

PMID:7032774
Abstract

Three members of a family previously reported by Sheldon, Luder and Web in 1961 as having a benign tubular renal disease have since developed renal failure. One received a renal transplant but died following this. This form of apparently primary, dominantly-inherited Fanconi syndrome is a mild disease in childhood, but leads to renal failure in adult life.

摘要

1961年,谢尔顿、卢德和韦伯曾报道过一个患有良性肾小管肾病的家族,该家族的三名成员后来发展为肾衰竭。其中一人接受了肾移植,但术后死亡。这种明显为原发性、显性遗传的范科尼综合征在儿童期是一种轻度疾病,但在成年后会导致肾衰竭。

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