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伴有晶体沉积物的遗传性房水蛋白水解异常

Hereditary ocular dysproteinhydria of the aqueous humour with crystalline deposits.

作者信息

Behrens-Baumann W, Schott K, Vogel M, Neuhoff V, Langenbeck U, Demeler U

出版信息

Graefes Arch Clin Exp Ophthalmol. 1984;221(5):187-91. doi: 10.1007/BF02134138.

Abstract

We describe a family with coloured crystalline deposits on the corneal endothelium and on the lens surface. A protein with a molecular weight of about 110,000 and an isoelectric point of 7-8 could be demonstrated in the aqueous humour, which was not found in the controls or in the serum of the family members. The pedigree is suggestive of autosomal dominant inheritance. To our knowledge this is the first report of this entity.

摘要

我们描述了一个家族,其角膜内皮和晶状体表面有彩色结晶沉积物。在房水中可检测到一种分子量约为110,000且等电点为7 - 8的蛋白质,而在对照组或该家族成员的血清中未发现这种蛋白质。该家系提示为常染色体显性遗传。据我们所知,这是关于该病症的首次报道。

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