CASE OF RENAL HYPOURICEMIA WITH A HOMOZYGOUS MUTATION IN THE SLC22A12 GENE AND LITERATURE REVIEW

被引:0
|
作者
Wang, Lan [1 ,2 ]
Tong, Ziheng [1 ]
Wu, Wenjing [1 ,2 ]
Wang, Xiaoqin [2 ]
机构
[1] Hubei Univ Chinese Med, Wuhan, Hubei, Peoples R China
[2] Hubei Prov Acad Tradit Chinese Med, Inst Chinese Med Nephrol, Hubei Prov Hosp TCM, Wuhan, Hubei, Peoples R China
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:27 / 27
页数:1
相关论文
共 50 条
  • [1] Hereditary renal hypouricemia with SLC22A12 mutation: A case report
    Yim, Jisook
    Kim, Myungshin
    Suh, Jin-Soon
    PEDIATRICS AND NEONATOLOGY, 2022, 63 (02): : 202 - 203
  • [2] Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
    Zhou, Zhaowei
    Ma, Lidan
    Zhou, Juan
    Song, Zhijian
    Zhang, Jinmai
    Wang, Ke
    Chen, Boyu
    Pan, Dun
    Li, Zhiqiang
    Li, Changgui
    Shi, Yongyong
    BMC MEDICAL GENETICS, 2018, 19
  • [3] A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome
    Lam, Ching-Wan
    Tsui, Teresa K. C.
    Chan, Ho-Ming
    Tong, Sui-Fan
    Kong, Alice P. S.
    Czaki, Risa
    Chan, Juliana C. N.
    Siu, Tak-Shing
    Tam, Sidney
    CLINICA CHIMICA ACTA, 2008, 398 (1-2) : 157 - 158
  • [4] Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report
    Kiyokazu Tsuji
    Mineaki Kitamura
    Kumiko Muta
    Yasushi Mochizuki
    Takayasu Mori
    Eisei Sohara
    Shinichi Uchida
    Hideki Sakai
    Hiroshi Mukae
    Tomoya Nishino
    BMC Nephrology, 21
  • [5] Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report
    Tsuji, Kiyokazu
    Kitamura, Mineaki
    Muta, Kumiko
    Mochizuki, Yasushi
    Mori, Takayasu
    Sohara, Eisei
    Uchida, Shinichi
    Sakai, Hideki
    Mukae, Hiroshi
    Nishino, Tomoya
    BMC NEPHROLOGY, 2020, 21 (01)
  • [6] Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
    Ichida, K.
    Hosoyamada, M.
    Kamatani, N.
    Kamitsuji, S.
    Hisatome, I.
    Shibasaki, T.
    Hosoya, T.
    CLINICAL GENETICS, 2008, 74 (03) : 243 - 251
  • [7] The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia
    Komoda, F
    Sekine, T
    Inatomi, J
    Enomoto, A
    Endou, H
    Ota, T
    Matsuyama, T
    Ogata, T
    Ikeda, M
    Awazu, M
    Muroya, K
    Kamimaki, I
    Igarashi, T
    PEDIATRIC NEPHROLOGY, 2004, 19 (07) : 728 - 733
  • [8] The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia
    Fusako Komoda
    Takashi Sekine
    Jun Inatomi
    Atsushi Enomoto
    Hitoshi Endou
    Toshiyuki Ota
    Takeshi Matsuyama
    Tsutomu Ogata
    Masahiro Ikeda
    Midori Awazu
    Koji Muroya
    Isamu Kamimaki
    Takashi Igarashi
    Pediatric Nephrology, 2004, 19 : 728 - 733
  • [9] A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese
    Iwai, N
    Mino, Y
    Hosoyamada, M
    Tago, N
    Kokubo, Y
    Endou, H
    KIDNEY INTERNATIONAL, 2004, 66 (03) : 935 - 944
  • [10] A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia
    Fujita, Kyoko
    Ichida, Kimiyoshi
    CLINICA CHIMICA ACTA, 2016, 463 : 119 - 121