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中华肾病研究电子杂志 ›› 2020, Vol. 09 ›› Issue (02) : 90 -91. doi: 10.3877/cma.j.issn.2095-3216.2020.02.009

所属专题: 经典病例 经典病例 文献

病例报告

高通量测序技术确定一例Alport综合征新的COL4A5基因突变
施钊钰1, 蒋霞2, 张园2, 范亚平1, 袁莉1,()   
  1. 1. 226000 南通,南通大学附属医院肾内科
    2. 226000 南通,南通市第二人民医院
  • 收稿日期:2019-03-18 出版日期:2020-04-28
  • 通信作者: 袁莉
  • 基金资助:
    国家自然科学青年基金项目(81200490); 江苏省研究生科研与创新计划项目(SJCX19_0874); 南通市科技局项目(MS12017017-7)

High-throughput sequencing technology identified a new COL4A5 gene mutation in a patient with Alport syndrome

Zhaoyu Shi1, Xia Jiang2, Yuan Zhang2   

  • Received:2019-03-18 Published:2020-04-28
引用本文:

施钊钰, 蒋霞, 张园, 范亚平, 袁莉. 高通量测序技术确定一例Alport综合征新的COL4A5基因突变[J]. 中华肾病研究电子杂志, 2020, 09(02): 90-91.

Zhaoyu Shi, Xia Jiang, Yuan Zhang. High-throughput sequencing technology identified a new COL4A5 gene mutation in a patient with Alport syndrome[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2020, 09(02): 90-91.

图1 家系图及基因鉴定测序图
图2 肾活检病理
[1]
Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome [J]. Clin Exp Nephrol, 2019, 23(2): 158-168.
[2]
孙宇,刘庆宏,曲利娟. Alport综合征肾脏的超微病理观察 [J].电子显微学报,2009, 28(06): 556-561.
[3]
Kashtan CE. Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis [J]. Pediatr Nephrol, 2000, 14(6): 502-512.
[4]
赵玉沛,张抒扬. 罕见病诊疗指南(2019年版) [M]. 北京:人民卫生出版社,2019: 13-18.
[5]
Savige J, Gregory M, Gross O, et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy [J]. J Am Soc Nephrol, 2013, 24(3): 364-375.
[6]
Kashiwagi Y, Suzuki S, Agata K, et al. A family case of X-linked Alport syndrome patients with a novel variant in COL4A5 [J]. CEN Case Rep, 2019, 8(2): 75-78.
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