A Perspective on a Urine-Derived Kidney Tubuloid Biobank from Patients with Hereditary Tubulopathies

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. Impact statement This review provides readers insight into aspects related to diagnosis and treatment of hereditary kidney tubulopathies that can be improved. In addition, it explains why in vitro functional analyses using a kidney organoid model (tubuloids) may be useful as a method to improve these aspects. Finally, the additional advantages and practical hurdles of collecting tubuloid lines in a biobank are discussed.

Automated summary

Inherited kidney tubulopathies are rare diseases with significant societal impact, often requiring lifelong treatment without available means to prevent renal damage progression. Diagnosis and treatment difficulties persist, including lack of genotype-phenotype correlation and symptomatic management. In vitro functional studies using kidney organoids (tubuloids) show promise in improving diagnosis and treatment, with patient-derived tubuloids in a living biobank offering additional advantages for drug development and pathophysiological studies.