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[家族性卵磷脂胆固醇酰基转移酶缺乏症]

[Familial LCAT deficiency].

作者信息

Kinoshita M

机构信息

First Department of Internal Medicine, Teikyo University School of Medicine.

出版信息

Nihon Rinsho. 1994 Dec;52(12):3210-5.

PMID:7853712
Abstract

Familial plasma lecithine: cholesterol acyltransferase (LCAT) deficiency is a disease that is inherited as an autosomal recessing trait. The main clinical abnormalities are corneal opacities, anemia and frequently, though not invariably, proteinuria. These abnormalities result from a failure of LCAT to esterify cholesterol in plasma. Renal failure can be a life-threatening complication. In plasma, all lipoprotein classes show abnormalities including lipid composition, shape, distribution and concentration. Fish eye disease, which is characterized by corneal opacities and plasma lipoprotein abnormalities, is also a result from deficiency of LCAT activity. As LCAT gene has been cloned, molecular defects of both familial LCAT deficiency and fish eye disease have been reported recently.

摘要

家族性血浆卵磷脂

胆固醇酰基转移酶(LCAT)缺乏症是一种以常染色体隐性遗传特征遗传的疾病。主要临床异常表现为角膜混浊、贫血,以及常出现(但并非总是出现)的蛋白尿。这些异常是由于LCAT无法使血浆中的胆固醇酯化所致。肾衰竭可能是一种危及生命的并发症。在血浆中,所有脂蛋白类别均表现出异常,包括脂质组成、形状、分布和浓度。以角膜混浊和血浆脂蛋白异常为特征的鱼眼病也是LCAT活性缺乏的结果。由于LCAT基因已被克隆,家族性LCAT缺乏症和鱼眼病的分子缺陷最近已有报道。

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