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Case Reports Kidney medicine. 2024 Dec 27;7(4):100956. doi: 10.1016/j.xkme.2024.100956 Q13.42025

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report

与肾囊肿性病变相关的NPHP2型先天性肾脏和尿路畸形(INVs突变): 1例报告 翻译改进

Yuichiro Sawada  1, Akinari Sekine  1, Yuki Oba  1, Masayuki Yamanouchi  1, Tatsuya Suwabe  1, Kei Kono  2, Keiichi Kinowaki  2, Kenichi Ohashi  2  3, Yutaka Yamaguchi  4, Takuya Fujimaru  5, Takayasu Mori  5, Eisei Sohara  5, Shinichi Uchida  5, Takehiko Wada  1, Naoki Sawa  1, Yoshifumi Ubara  1

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作者单位

  • 1 Nephrology Center and the Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Japan.
  • 2 Department of Pathology, Toranomon Hospital, Japan.
  • 3 Department of Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Tokoyo, Japan.
  • 4 Yamaguchi's Pathology Laboratory, Chiba, Japan.
  • 5 Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokoyo, Japan.
  • DOI: 10.1016/j.xkme.2024.100956 PMID: 40475304

    摘要 中英对照阅读

    <p> We examined a 68-year-old woman with decreased renal function (serum creatinine level of 1.77 mg/dL) and polycystic kidney disease. Magnetic resonance imaging revealed multiple bilateral renal cysts with uniform low intensity on T1-weighted images and unifo... ...

    <p>&#25105;&#20204;&#26816;&#26597;&#20102;&#19968;&#20301;68&#23681;&#30340;&#22899;&#24615;&#24739;&#32773;&#65292;&#22905;&#32958;&#21151;&#33021;&#19979;&#38477;&#65288;&#34880;&#28165;&#32908;&#37200;&#27700;&#24179;&#20026;1.77 mg/dL&#65289;&#24182;&#24739;&#26377;&#22810;&#22218;&#32958;&#301... ...

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    期刊名:Kidney medicine

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    ISSN:2590-0595

    e-ISSN:2590-0595

    IF/分区:3.4/Q1

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    INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report