A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy

被引:20
作者
Bomback, Andrew S. [1 ]
Song, Huijuan [2 ]
D'Agati, Vivette D. [3 ]
Cohen, Scott D. [1 ]
Neal, Alison [2 ]
Appel, Gerald B. [1 ]
Rovin, Brad H. [2 ]
机构
[1] Columbia Univ, Div Nephrol, Dept Med, Coll Phys & Surg, New York, NY 10027 USA
[2] Ohio State Univ, Coll Med, Div Nephrol, Dept Med, Columbus, OH 43210 USA
[3] Columbia Univ, Dept Pathol, Coll Phys & Surg, New York, NY USA
关键词
dyslipidaemia; genetics; glomerulonephritis; ACID DELETION;
D O I
10.1093/ndt/gfq389
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
Lipoprotein glomerulopathy is a rare disease diagnosed by unique histopathologic findings of glomerular capillary dilatation by lipoprotein thrombi. The disease is caused by mutations in apoE, the gene that encodes apolipoprotein E. To date, < 80 cases have been reported in the medical literature, nearly all of which are from Japan or China. Only five cases from the United States have previously been reported, of which three patients were of European ancestry. Here, we present the fourth case of lipoprotein glomerulopathy in a European-American man. Whereas prior European-American patients with lipoprotein glomerulopathy were found to have the previously reported apoE Kyoto genotype, the patient presented here was found to have a novel mutation that we have named apoE Las Vegas.
引用
收藏
页码:3442 / 3446
页数:5
相关论文
共 14 条
  • [1] A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy
    Ando, M
    Sasaki, J
    Hua, H
    Matsunaga, A
    Uchida, K
    Jou, K
    Oikawa, S
    Saito, T
    Nihei, H
    [J]. KIDNEY INTERNATIONAL, 1999, 56 (04) : 1317 - 1323
  • [2] BOUMENDJEL R, ARCH PATHOL LAB MED, V134, P279
  • [3] Resolution of typical lipoprotein glomerulopathy by intensive lipid-lowering therapy
    Ieiri, N
    Hotta, O
    Taguma, Y
    [J]. AMERICAN JOURNAL OF KIDNEY DISEASES, 2003, 41 (01) : 244 - 249
  • [4] Virus-mediated transduction of apolipoprotein E (ApoE)-Sendai develops lipoprotein glomerulopathy in ApoE-deficient mice
    Ishigaki, Y
    Oikawa, S
    Suzuki, T
    Usui, S
    Magoori, K
    Kim, DH
    Suzuki, H
    Sasaki, J
    Sasano, H
    Okazaki, M
    Toyota, T
    Saito, T
    Yamamoto, TT
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (40) : 31269 - 31273
  • [5] A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy
    Kinomura, Masaru
    Sugiyama, Hitoshi
    Saito, Takao
    Matsunaga, Akira
    Sada, Ken-ei
    Kanzaki, Motoko
    Takazawa, Yuki
    Maeshima, Yohei
    Yanai, Hiroyuki
    Makino, Hirofumi
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2008, 23 (02) : 751 - 756
  • [6] Association of a novel 3-amino acid deletion mutation of apolipoprotein E (Apo E Tokyo) with lipoprotein glomerulopathy
    Konishi, K
    Saruta, T
    Kuramochi, S
    Oikawa, S
    Saito, T
    Han, H
    Matsunaga, A
    Sasaki, J
    [J]. NEPHRON, 1999, 83 (03): : 214 - 218
  • [7] Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy
    Luo, Boxun
    Huang, Fengxian
    Liu, Qicai
    Li, Xiaoyan
    Chen, Wenfang
    Zhou, Shu-Feng
    Yu, Xueqing
    [J]. AMERICAN JOURNAL OF NEPHROLOGY, 2008, 28 (02) : 347 - 353
  • [8] A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy
    Matsunaga, A
    Sasaki, J
    Komatsu, T
    Kanatsu, K
    Tsuji, E
    Moriyama, K
    Koga, T
    Arakawa, K
    Oikawa, S
    Saito, T
    Kita, T
    Doi, T
    [J]. KIDNEY INTERNATIONAL, 1999, 56 (02) : 421 - 427
  • [9] Miyata T, 1999, J AM SOC NEPHROL, V10, P1590
  • [10] Oikawa S, 1997, J AM SOC NEPHROL, V8, P820