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Updated: Jul 6, 2025

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切断PKD1突变加速eGFR下降 自体主导多囊性病患者

Hamad Ali1,2,3, Barrak Alahmad4, Sarah R Senum5,6

  • 1Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center (HSC), Kuwait University, Jabriya, Kuwait.

American journal of nephrology
|January 9, 2024
PubMed
概括

与非截断突变患者相比,患有自身主导多囊性病 (ADPKD) 和PKD1截断突变的患者经历了更快的功能衰退和更短的存期. 早期识别截断突变有助于积极监测和潜在干预.

关键词:
在PKD1中,PKD1是PKD1.多囊性脏病是一种多囊性脏病.一个进步的进步.削减突变的突变美国GFRGFR

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