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{"title":"How to Suspect and Approach Patients With Genetic Tubular Disease.","authors":"Fiona E Karet Frankl","doi":"10.1016/j.semnephrol.2025.151654","DOIUrl":null,"url":null,"abstract":"<p><p>Suspecting that a patient has an inherited renal tubular disorder usually involves a mixture of listening to their story, asking the right questions, looking at the whole patient and their context, examining components of blood and urine, and assessing relevant imaging. Usually, inherited tubulopathies are rare, and they may include extrarenal features. Genetic testing has become widely available and can be used to establish a firm diagnosis in many situations, but this should not replace attempts to work out the diagnosis biochemically. Patients with tubular disorders often wait a long time for a diagnosis because many such conditions are very rare; genetic confirmation may well improve their quality of life. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.</p>","PeriodicalId":21756,"journal":{"name":"Seminars in nephrology","volume":" ","pages":"151654"},"PeriodicalIF":3.5000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.semnephrol.2025.151654","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/7/17 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
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Abstract
Suspecting that a patient has an inherited renal tubular disorder usually involves a mixture of listening to their story, asking the right questions, looking at the whole patient and their context, examining components of blood and urine, and assessing relevant imaging. Usually, inherited tubulopathies are rare, and they may include extrarenal features. Genetic testing has become widely available and can be used to establish a firm diagnosis in many situations, but this should not replace attempts to work out the diagnosis biochemically. Patients with tubular disorders often wait a long time for a diagnosis because many such conditions are very rare; genetic confirmation may well improve their quality of life. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.
如何怀疑和处理遗传性小管病患者。
怀疑病人是否患有遗传性肾小管疾病通常需要倾听病人的故事，提出正确的问题，观察整个病人及其情况，检查血液和尿液的成分，并评估相关的影像学检查。通常，遗传性小管病是罕见的，它们可能包括外部特征。基因检测已广泛应用，在许多情况下可用于确定诊断，但这不应取代生物化学诊断的尝试。患有肾小管疾病的患者往往要等很长时间才能得到诊断，因为许多这类疾病非常罕见；基因鉴定很可能改善他们的生活质量。Semin Nephrol 36:x-xx©20XX Elsevier Inc.。版权所有。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
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