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中国脂蛋白肾小球病患者的临床病理及遗传学特征

Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy.

作者信息

Zhang Bo, Liu Zhi-Hong, Zeng Cai-Hong, Zheng Jing-Min, Chen Hui-Ping, Li Lei-Shi

机构信息

Research Institute of Nephrology, Jinling Hospital, Nanjing University School of Medicine, Nanjing 21002 [corrected] China.

出版信息

J Nephrol. 2008 Jan-Feb;21(1):110-7.

Abstract

OBJECTIVE

In this study, we report on 16 Chinese patients with biopsy-proven lipoprotein glomerulopathy (LPG) investigated for clinical manifestations, pathological characteristics and apolipoprotein E (apoE) genetic analysis.

METHODS

A retrospective analysis of the clinical and pathological features was made in 16 patients with LPG. Plasma concentrations and genetic analysis of apoE were completed. Glomerular depositions of apoA, apoB and apoE were detected using monoclonal antibodies on cryostatic sections in all patients.

RESULTS

All 16 patients presented with edema; 14 presented with nephrotic syndrome. Anemia, microhematuria, hypertension and abnormal levels of serum creatinine were detected in 12 patients (75%), 11 patients (69%), 8 patients (50%) and 6 patients (37.5%), respectively. All the patients showed hypertriglyceridemia, while only 7 showed slight hypercholesterolemia. The characteristic features of hyperlipidemia in these patients were approximately in accord with those of type IV hyperlipoproteinemia. Concentrations of apoB correlated with urine protein, triglycerides and cholesterol (r=0.558, p=0.038; r=0.6, p=0.023; r=0.65, p=0.012; respectively). No correlation was found between serum level of apoE and clinicopathological features in patients with LPG. The genotype of apoE-epsilon3/epsilon4 is the predominant one in Chinese patients with LPG. No mutated forms of apoE were found, compared with previous reports.

CONCLUSION

Unique clinicopathological and genetic features were found in this group of Chinese patients with LPG compared with the general population, including lower serum levels of apoE and cholesterol, as well as anemia and microhematuria. Multiple factors other than apoE were involved in the pathogenesis of LPG.

摘要

目的

在本研究中,我们报告了16例经活检证实为脂蛋白肾小球病(LPG)的中国患者,对其临床表现、病理特征及载脂蛋白E(apoE)基因分析进行了研究。

方法

对16例LPG患者的临床和病理特征进行回顾性分析。完成了apoE的血浆浓度检测和基因分析。使用单克隆抗体在所有患者的冷冻切片上检测apoA、apoB和apoE的肾小球沉积。

结果

16例患者均有水肿;14例表现为肾病综合征。分别有12例(75%)、11例(69%)、8例(50%)和6例(37.5%)患者检测到贫血、镜下血尿、高血压和血清肌酐水平异常。所有患者均有高甘油三酯血症,而只有7例有轻度高胆固醇血症。这些患者高脂血症的特征与IV型高脂蛋白血症大致相符。apoB浓度与尿蛋白、甘油三酯和胆固醇相关(r分别为0.558、p = 0.038;r = 0.6、p = 0.023;r = 0.65、p = 0.012)。LPG患者血清apoE水平与临床病理特征之间未发现相关性。apoE-ε3/ε4基因型是中国LPG患者中的主要基因型。与既往报道相比,未发现apoE的突变形式。

结论

与一般人群相比,这组中国LPG患者具有独特的临床病理和遗传特征,包括较低的血清apoE和胆固醇水平,以及贫血和镜下血尿。LPG的发病机制涉及apoE以外的多种因素。

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