Inherited kidney tubulopathies comprise a group of rare diseases with a significant societal impact, as lifelong treatment is often required and no therapies are available to prevent progression of renal damage. Diagnosis of inherited tubulopathies has improved with the advances of next generation sequencing. However, difficulties remain, such as a lack of genotype-phenotype correlation and unknown pathogenicity of newly identified variants. In addition, treatment remains mainly symptomatic. Both diagnosis and treatment can be improved by addition of in vitro functional studies to clinical care. Urine-derived kidney organoids (“tubuloids”) are a promising platform for these studies. International collections of patient-derived tubuloids in a living biobank offer additional advantages for drug development and pathophysiological studies. In this review, we discuss how diagnosis and treatment of tubulopathies can be improved by in vitro studies using a tubuloid biobank. We also address practical challenges in the development of such biobank.

中文翻译：

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遗传性肾小管病患者尿源性肾小管生物库的观点

遗传性肾小管病包括一组具有重大社会影响的罕见疾病，因为通常需要终生治疗，并且没有可用的治疗方法来预防肾损害的进展。随着新一代测序技术的进步，遗传性肾小管病的诊断得到了改善。然而，困难仍然存在，例如缺乏基因型-表型相关性以及新发现的变异的致病性未知。此外，治疗仍然主要是对症治疗。通过添加体外，可以改善诊断和治疗临床护理的功能研究。尿液衍生的肾脏类器官（“管状体”）是这些研究的一个有前途的平台。活体生物库中患者来源的微管的国际集合为药物开发和病理生理学研究提供了额外的优势。在这篇综述中，我们讨论了如何通过使用管状生物库的体外研究来改善小管病的诊断和治疗。我们还解决了此类生物库开发过程中的实际挑战。