Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).
Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).
复制标题
具有杂合载脂蛋白 E5 (Glu3Lys) 的局灶节段性肾小球硬化。
DOI：
10.1007/s13730-018-0331-4
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发表时间：
2018
期刊：
影响因子：
1
通讯作者：
Saito T
中科院分区：
文献类型：
--
作者：
Sasaki M;Yasuno T;Ito K;Matsunaga A;Hisano S;Abe Y;Miyake K;Masutani K;Nakashima H;Saito T
载脂蛋白（apo） E5是一种罕见的载脂蛋白e亚型。apoE5 （Glu3Lys）变异是由赖氨酸在密码子3上被谷氨酸取代引起的，在日本的相对频率为0.1%。先前的研究报道了apoE5 （Glu3Lys）与高脂血症和心血管疾病相关，但该异构体比正常的apoE3具有更高的LDL受体结合活性。单独与apoE5 （Glu3Lys）相关的肾病尚未报道。我们报告一例51岁男性肾病综合征。肾活检显示，3个肾小球呈节段性硬化伴足细胞肥大，肾小球内泡沫细胞明显浸润。这些结果与局灶节段性肾小球硬化（FSGS）相符。患者有轻度糖尿病和单克隆性伽玛病，但未发现与这些疾病相关的肾病。FSGS的发病机制涉及多种因素，包括血脂异常和apoE活性。我们的研究结果表明，ApoE5 （Glu3Lys）的脂质代谢异常参与了FSGS的发病。
Apolipoprotein (apo) E5 is a rare apoE isoform. The apoE5 (Glu3Lys) variant, which is caused by the substitution of lysine with glutamic acid at codon 3, has a relative frequency of 0.1% in Japan. Previous studies have reported that apoE5 (Glu3Lys) is associated with hyperlipidemia and cardiovascular diseases, but this isoform has higher LDL receptor-binding activity than that of normal apoE3. Nephropathy associated with apoE5 (Glu3Lys) alone has not yet been reported. We present a case of a 51-year-old man with nephrotic syndrome. On renal biopsy, three glomeruli showed segmental sclerosis with hypertrophy of podocytes and intracapillary marked infiltration of intraglomerular foam cells. These findings were compatible with focal segmental glomerulosclerosis (FSGS). The patient had mild diabetes mellitus and monoclonal gammopathy of undetermined significance, but there were no specific findings of nephrolopathy related to these diseases. Various factors are involved in the pathogenesis of FSGS, including dyslipidemia and apoE activity. Our findings suggest that abnormal lipid metabolism by ApoE5 (Glu3Lys) is involved in the onset of FSGS.