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中华肾病研究电子杂志 ›› 2026, Vol. 15 ›› Issue (05) : 286 -288. doi: 10.3877/cma.j.issn.2095-3216.2026.05.007

病例报告

长读长测序技术揭示MUC1 27dupC突变所致常染色体显性遗传性肾小管间质性肾病家系1例并文献复习
毕靖茹1,2, 国文凯1,2, 纪鹏程2, 欧晓梅3, 谢院生1,2,†()   
  1. 1300071 天津,南开大学医学院
    2100853 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、肾病与泌尿系统疾病国家临床医学研究中心、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)、国家中医药管理局中医药创新团队及人才支持计划项目(ZYYCXTD-D-202402)
    3101318 北京迈基诺基因科技股份有限公司
  • 收稿日期:2025-11-19 出版日期:2026-10-28
  • 通信作者: 谢院生
  • 基金资助:
    国家重点研发计划"精准医学研究"重点专项"罕见病临床队列研究"(2016YFC0901502)

Long-read sequencing identifies a family with autosomal dominant tubulointerstitial kidney disease due to MUC1 27dupC mutation: a case report and literature review

Jingru Bi, Wenkai Guo, Pengcheng Ji   

  • Received:2025-11-19 Published:2026-10-28
引用本文:

毕靖茹, 国文凯, 纪鹏程, 欧晓梅, 谢院生. 长读长测序技术揭示MUC1 27dupC突变所致常染色体显性遗传性肾小管间质性肾病家系1例并文献复习[J/OL]. 中华肾病研究电子杂志, 2026, 15(05): 286-288.

Jingru Bi, Wenkai Guo, Pengcheng Ji. Long-read sequencing identifies a family with autosomal dominant tubulointerstitial kidney disease due to MUC1 27dupC mutation: a case report and literature review[J/OL]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2026, 15(05): 286-288.

图1 先证者家系图注:方框代表正常男性,圆圈代表正常女性;黑色实心方框或圆代表男性患者或女性患者;斜线表示已故个体;罗马数字(Ⅰ,Ⅱ,Ⅲ)代表世代,阿拉伯数字代表各代中的个体编号;箭头指示为先证者(Ⅲ-1)
图2 先证者肾穿刺病理结果注:A为过碘酸—雪夫染色(×100)显示24个完整肾小球,体积正常,全片见21个全球硬化(87.5%),残存肾小球未见球囊粘连、节段硬化及新月体,未见系膜细胞增殖及系膜基质增宽,内皮细胞未见增殖,毛细血管袢皱缩,壁层上皮细胞节段增殖,包曼氏囊壁增厚分层;肾小管弥漫性重度萎缩,可见少量蛋白管型,间质弥漫性、重度纤维化,重度炎细胞浸润,以淋巴、单核细胞为主;肾内细动脉可见玻璃样变;B为过碘酸-六胺银染色(×100)显示基底膜不厚,未见双轨及钉突;C为免疫荧光IgG(-);D为免疫荧光IgA(-)
图3 先证者及先证者父亲病史对比注:该图以并列时间轴的形式,直观地对比了先证者与先证者父亲的临床病程;可见父子两人均在30岁左右出现肾功能受损,并快速进展至终末期肾病
图4 MUC1 VNTR区域拷贝数及27dupC突变位点分析注:A为MUC1基因VNTR区域重复单元拷贝数分布图,显示该样本主要包含36个重复单元;B为27dupC突变在不同重复单元上的分布频率热图,横坐标代表VNTR重复单元的序号(第1至36个),纵坐标代表该位置出现突变的概率;分析显示27dupC突变特异性地位于第11个重复单元(频率>95%),证实了突变的位置特异性
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