将基因检测纳入常规肾脏门诊。

IF 1.1 4区 医学 Q3 UROLOGY & NEPHROLOGY
Jingjing Zhang, Wing Zeng, Seyed Hamrahian, Omar H Maarouf
{"title":"将基因检测纳入常规肾脏门诊。","authors":"Jingjing Zhang, Wing Zeng, Seyed Hamrahian, Omar H Maarouf","doi":"10.5414/CN111138","DOIUrl":null,"url":null,"abstract":"Incorporating genetic testing in routine outpatient nephrology clinic can improve on chronic kidney disease (CKD) diagnosis and utilization of precision medicine. We sent a genetic test on patients with atypical presentation of common kidney diseases, electrolytes derangements, and cystic kidney diseases. We were able to identify a gene variant contributing to patients' kidney disease in more than half of our cohort. We then showed that patients with ApoL1 risk allele have likely worse kidney disease, and we were able to confirm genetic focal segmental glomerulosclerosis (FSGS) in 2 patients and avoid unnecessary immunosuppression. Genetic testing has also improved our operation to establish a polycystic kidney disease excellence center by confirming our diagnosis, especially in patients without a well-defined family history. In conclusion, utilizing genetic testing in a routine outpatient renal clinic did not cause any burden to either patients or nephrologists, with minimal administrative effort and no financial cost to our patients. We expect that genetic testing in the right setting should become routine in nephrology to achieve a patient-centered precision medicine with less invasive means of kidney disease diagnosis.","PeriodicalId":10396,"journal":{"name":"Clinical nephrology","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Incorporating genetic testing into a routine kidney clinic.\",\"authors\":\"Jingjing Zhang, Wing Zeng, Seyed Hamrahian, Omar H Maarouf\",\"doi\":\"10.5414/CN111138\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Incorporating genetic testing in routine outpatient nephrology clinic can improve on chronic kidney disease (CKD) diagnosis and utilization of precision medicine. We sent a genetic test on patients with atypical presentation of common kidney diseases, electrolytes derangements, and cystic kidney diseases. We were able to identify a gene variant contributing to patients' kidney disease in more than half of our cohort. We then showed that patients with ApoL1 risk allele have likely worse kidney disease, and we were able to confirm genetic focal segmental glomerulosclerosis (FSGS) in 2 patients and avoid unnecessary immunosuppression. Genetic testing has also improved our operation to establish a polycystic kidney disease excellence center by confirming our diagnosis, especially in patients without a well-defined family history. In conclusion, utilizing genetic testing in a routine outpatient renal clinic did not cause any burden to either patients or nephrologists, with minimal administrative effort and no financial cost to our patients. We expect that genetic testing in the right setting should become routine in nephrology to achieve a patient-centered precision medicine with less invasive means of kidney disease diagnosis.\",\"PeriodicalId\":10396,\"journal\":{\"name\":\"Clinical nephrology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-04-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical nephrology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5414/CN111138\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5414/CN111138","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

将基因检测纳入肾脏内科常规门诊,可改善慢性肾脏病(CKD)的诊断和精准医疗的应用。我们对常见肾病、电解质紊乱和囊性肾病的非典型表现患者进行了基因检测。我们能够在半数以上的患者中发现导致肾病的基因变异。然后,我们发现具有载脂蛋白 L1 危险等位基因的患者肾病可能更严重,我们还确认了两名患者的遗传性局灶节段性肾小球硬化症(FSGS),避免了不必要的免疫抑制。基因检测还通过确诊改善了我们建立多囊肾病卓越中心的工作,尤其是对没有明确家族史的患者。总之,在常规肾病门诊中使用基因检测不会给患者或肾病专家造成任何负担,只需花费极少的行政精力,患者也无需支付任何费用。我们希望,在适当的环境下进行基因检测应成为肾脏病学的常规工作,以实现以患者为中心的精准医疗,同时减少肾脏疾病诊断的侵入性手段。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incorporating genetic testing into a routine kidney clinic.
Incorporating genetic testing in routine outpatient nephrology clinic can improve on chronic kidney disease (CKD) diagnosis and utilization of precision medicine. We sent a genetic test on patients with atypical presentation of common kidney diseases, electrolytes derangements, and cystic kidney diseases. We were able to identify a gene variant contributing to patients' kidney disease in more than half of our cohort. We then showed that patients with ApoL1 risk allele have likely worse kidney disease, and we were able to confirm genetic focal segmental glomerulosclerosis (FSGS) in 2 patients and avoid unnecessary immunosuppression. Genetic testing has also improved our operation to establish a polycystic kidney disease excellence center by confirming our diagnosis, especially in patients without a well-defined family history. In conclusion, utilizing genetic testing in a routine outpatient renal clinic did not cause any burden to either patients or nephrologists, with minimal administrative effort and no financial cost to our patients. We expect that genetic testing in the right setting should become routine in nephrology to achieve a patient-centered precision medicine with less invasive means of kidney disease diagnosis.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Clinical nephrology
Clinical nephrology 医学-泌尿学与肾脏学
CiteScore
2.10
自引率
9.10%
发文量
138
审稿时长
4-8 weeks
期刊介绍: Clinical Nephrology appears monthly and publishes manuscripts containing original material with emphasis on the following topics: prophylaxis, pathophysiology, immunology, diagnosis, therapy, experimental approaches and dialysis and transplantation.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信