Takasaki Satoshi, Matsunaga Akira, Joh Kensuke, Saito Takao
Department of Internal Medicine, Saiseikai Yamagata Saisei Hospital, 79-1 Oki-machi, Yamagata, 990-8545, Japan.
Department of Laboratory Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
CEN Case Rep. 2018 May;7(1):127-131. doi: 10.1007/s13730-018-0309-2. Epub 2018 Jan 22.
Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia with heterozygous mutation of the apolipoprotein (apo) E gene. We herein present the case of a 50-year-old woman with LPG complicated by neurofibromatosis type 1 (NF1). To the best of our knowledge, this is the first report of a case of LPG complicated by NF1. On the other hand, she had not only a heterozygous apoE-Sendai mutation, which is one of the most frequent apoE variants in LPG patients, but also a rare isoform of ApoE5 (Glu3Lys). Although apoE mutation has been recognized as having a principal role in the pathogenesis of LPG, some other factors are assumed to be present in the pathogenesis of LPG, because many asymptomatic carriers of apoE variants are recognized. The coexistence of NF1 or apoE5 (Glu3Lys) allele might play a role as an additional factor in the development of LPG.
脂蛋白肾小球病（LPG）是一种罕见的遗传性疾病，其特征为扩张的肾小球毛细血管内存在脂蛋白血栓的组织病理学特征以及伴有载脂蛋白（apo）E基因杂合突变的III型高脂血症样表现。我们在此报告一例50岁患有LPG并合并1型神经纤维瘤病（NF1）的女性病例。据我们所知，这是首例LPG合并NF1的病例报告。另一方面，她不仅有杂合的apoE-仙台突变，这是LPG患者中最常见的apoE变异体之一，还存在一种罕见的ApoE5（Glu3Lys）异构体。尽管apoE突变已被认为在LPG的发病机制中起主要作用，但由于存在许多无症状的apoE变异体携带者，推测LPG的发病机制中还存在其他一些因素。NF1或apoE5（Glu3Lys）等位基因的共存可能作为LPG发生发展的一个额外因素发挥作用。
