常见载脂蛋白 E 基因突变导致中国人脂蛋白肾小球病。
Common apolipoprotein E gene mutations contribute to lipoprotein glomerulopathy in China.
机构信息
Renal Division, Peking University, First Hospital, Beijing, China.
出版信息
Nephron Clin Pract. 2010;114(4):c260-7. doi: 10.1159/000276578. Epub 2010 Jan 20.
BACKGROUND
Lipoprotein glomerulopathy (LPG) is a unique disease characterized by thrombus-like lipoprotein deposition in glomeruli and an increased serum apolipoprotein E level (ApoE protein or APOE gene). Several APOE mutations contribute to the occurring of LPG.
METHODS
We confirmed LPG in 7 individuals by renal biopsy, and investigated families of 2 patients with urinalysis, serum creatinine and serum lipid examination. Exons of APOE of all individuals as well as their relatives were amplified and sequenced directly.
RESULTS
Two types of APOE mutations were identified in the 7 patients and their relatives. APOE Maebashi (Arg142-Leu144-->0) heterozygotes were found in 5 individuals who were from 4 different families. APOE Kyoto (Arg25-Cys) was confirmed heterogeneous in another 2 individuals. Both mutations present incomplete penetrance.
CONCLUSION
Our research indicates that APOE Maebashi (Arg142-Leu144-->0) is a common mutation in Chinese LPG. However, not all carriers of the 2 mutations have LPG, although hyperlipidemia and high serum ApoE level are tested. There are likely other reasons, such as a local mechanism in the glomeruli, which participated in the renal injury.
背景
脂蛋白肾小球病（LPG）是一种独特的疾病，其特征是肾小球内血栓样脂蛋白沉积和血清载脂蛋白 E 水平升高（载脂蛋白 E 蛋白或 APOE 基因）。几种 APOE 突变导致 LPG 的发生。
方法
我们通过肾活检证实了 7 例 LPG，并对 2 例患者的家族进行了尿分析、血清肌酐和血脂检查。直接扩增和测序所有个体及其亲属的 APOE 外显子。
结果
在 7 例患者及其亲属中发现了 2 种 APOE 突变。来自 4 个不同家族的 5 例个体存在 APOE 前白蛋白（Arg142-Leu144-->0）杂合子。另 2 例个体证实存在 APOE 京都（Arg25-Cys）异质性。两种突变均不完全外显。
结论
我们的研究表明，APOE Maebashi（Arg142-Leu144-->0）是中国 LPG 的常见突变。然而，并非所有携带这两种突变的人都患有 LPG，尽管检查了高脂血症和高血清 ApoE 水平。可能还有其他原因，例如肾小球内的局部机制，参与了肾脏损伤。
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