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中华肾病研究电子杂志 ›› 2025, Vol. 14 ›› Issue (04) : 236 -239. doi: 10.3877/cma.j.issn.2095-3216.2025.04.010

病例报告

TBC1D8B基因突变所致微小病变肾病:1例报告并文献复习
聂飒飒1, 和鹏飞1, 于祥1, 强蒙蒙2, 冯哲1, 林淑芃1,()   
  1. 1100853 北京,解放军总医院第一医学中心肾脏病医学部、肾脏疾病全国重点实验室、国家慢性肾病临床医学研究中心、重症肾脏疾病器械与中西医药物研发北京市重点实验室、数智中医泛血管疾病防治北京市重点实验室、国家中医药管理局高水平中医药重点学科(zyyzdxk-2023310)
    2756000 宁夏固原市人民医院肾脏内科
  • 收稿日期:2024-12-11 出版日期:2025-08-28
  • 通信作者: 林淑芃

TBC1D8B gene mutation-associated minimal change disease: a case report and literature review

Sasa Nie, Pengfei He, Xiang Yu   

  • Received:2024-12-11 Published:2025-08-28
引用本文:

聂飒飒, 和鹏飞, 于祥, 强蒙蒙, 冯哲, 林淑芃. TBC1D8B基因突变所致微小病变肾病:1例报告并文献复习[J/OL]. 中华肾病研究电子杂志, 2025, 14(04): 236-239.

Sasa Nie, Pengfei He, Xiang Yu. TBC1D8B gene mutation-associated minimal change disease: a case report and literature review[J/OL]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2025, 14(04): 236-239.

图1 患者24 h尿蛋白定量的变化及他克莫司减量的时间节点
图2 不同物种TBC1D8B基因翻译的氨基酸序列保守性分析(主要呈现含第1 028位氨基酸序列)注:每一行对应不同物种TBC1D8B基因翻译的氨基酸序列,每一列对应不同物种同一位置的氨基酸;其中,第二行是该患者的氨基酸序列,可见其第1 028位氨基酸(长竖框标示)为甘氨酸(glycine,G);而其他物种在该位点的氨基酸均为谷氨酸(glutamic acid,E),可见目标位点的氨基酸序列在不同物种间呈现高度保守特征
表1 TBC1D8B基因突变相关的临床病例报导
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