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一例伴有载脂蛋白E芝加哥型和载脂蛋白E(谷氨酸3赖氨酸)的脂蛋白肾小球病患者接受非诺贝特治疗的病例。

A Case of Lipoprotein Glomerulopathy with apoE Chicago and apoE (Glu3Lys) Treated with Fenofibrate.

作者信息

Kodera Hitoshi, Mizutani Yasuhide, Sugiyama Satoshi, Miyata Toshio, Ehara Takashi, Matsunaga Akira, Saito Takao

机构信息

Department of Internal Medicine, Yokkaichi Hazu Medical Center, Yokkaichi, Japan.

Kanayama Clinic, Nagoya, Japan.

出版信息

Case Rep Nephrol Dial. 2017 Jul 27;7(2):112-120. doi: 10.1159/000478902. eCollection 2017 May-Aug.

Abstract

Lipoprotein glomerulopathy (LPG) is characterized by the accumulation of lipoprotein thrombi within glomerular capillaries. This rare disorder is associated with various types of mutations in the apolipoprotein E gene (). Herein, we present a case of LPG with a combination of Chicago (Arg147Pro) and (Glu3Lys) mutations. A 51-year-old Japanese woman presented with severe (3+) proteinuria. The initial renal biopsy showed glomerular capillary dilation and occlusion with lipid granules, a specific characteristic of LPG. Phenotype, genotype, and DNA sequence analyses detected 2 mutations as described above within the same allele. Although both mutations had already been reported in 1 case of LPG each, this is the first time that the combination of the 2 mutations was identified in the same case. Familial analysis detected the same mutations in the patient's mother. However, she has not suffered LPG thus far. In addition, a re-analysis of the previous LPG case with (Glu3Lys) also identified the Chicago mutation, as was observed in our case. Treatment with fenofibrate and irbesartan was initiated, and urinary protein excretion ceased within 1 year; recurrence was not observed after an additional 2 years of follow-up. A second biopsy after 2 years showed great improvement, with lipoprotein thrombi identified only in 2 of 18 glomeruli.

摘要

脂蛋白肾小球病(LPG)的特征是肾小球毛细血管内脂蛋白血栓形成。这种罕见疾病与载脂蛋白E基因的多种突变有关。在此,我们报告一例合并芝加哥(Arg147Pro)和(Glu3Lys)突变的LPG病例。一名51岁的日本女性出现重度(3+)蛋白尿。最初的肾活检显示肾小球毛细血管扩张并被脂质颗粒阻塞,这是LPG的一个特征性表现。表型、基因型和DNA序列分析在同一个等位基因内检测到上述两种突变。尽管这两种突变各自在1例LPG中已有报道,但这是首次在同一病例中发现这两种突变的组合。家族分析在患者母亲中检测到相同的突变。然而,她目前尚未患LPG。此外,对之前患有(Glu3Lys)突变的LPG病例进行重新分析时,也发现了芝加哥突变,与我们的病例情况相同。开始使用非诺贝特和厄贝沙坦治疗,1年内尿蛋白排泄停止;在额外随访2年后未观察到复发。2年后的第二次活检显示有很大改善,仅在18个肾小球中的2个中发现脂蛋白血栓。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7321/5618396/96142d0ca7fe/cnd-0007-0112-g01.jpg

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