Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.

Graphic abstract

This is a preview of subscription content, access via your institution.

Availability of data and material

All data generated or analyzed during this study are included in this published article and its Supplementary information file (Online Resource).

References

  1. 1.

    De S, Kuwahara S, Saito A (2014) The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells. Membranes 4:333–355. https://doi.org/10.3390/membranes4030333

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  2. 2.

    Storm T, Tranebjærg L, Frykholm C, Birn H, Verroust PJ, Nevéus T, Sundelin B, Hertz JM, Holmström G, Ericson K, Christensen EI, Nielsen R (2013) Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transplant 28:585–591. https://doi.org/10.1093/ndt/gfs462

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Dachy A, Paquot F, Debray G, Bovy C, Christensen EI, Collard L, Jouret F (2015) In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. Pediatr Nephrol 30:1027–1031. https://doi.org/10.1007/s00467-014-3037-7

    Article  PubMed  Google Scholar 

  4. 4.

    Flemming J, Marczenke M, Rudolph IM, Nielsen R, Storm T, Erik IC, Diecke S, Emma F, Willnow TE (2020) Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int 98:159–167. https://doi.org/10.1016/j.kint.2020.02.021

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    Johannes L, Popoff V (2008) Tracing the retrograde route in protein trafficking. Cell 135:1175–1187. https://doi.org/10.1016/j.cell.2008.12.009

    CAS  Article  PubMed  Google Scholar 

  6. 6.

    Li Q, Lei F, Tang Y, Pan JS, Tong Q, Sun Y, Sheikh-Hamad D (2018) Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism. Cell Mol Life Sci 75:4021–4040. https://doi.org/10.1007/s00018-018-2847-3

    CAS  Article  PubMed  Google Scholar 

  7. 7.

    Anglani F, Terrin L, Brugnara M, Battista M, Cantaluppi V, Ceol M, Bertoldi L, Valle G, Joy MP, Pober BR, Longoni M (2018) Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet 94:187–188. https://doi.org/10.1111/cge.13242

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  8. 8.

    Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, Joannis AL, Mégarbané A (2009) A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Eur J Med Genet 52:341–343. https://doi.org/10.1016/j.ejmg.2009.06.005

    Article  PubMed  Google Scholar 

  9. 9.

    Patrie KM, Drescher AJ, Welihinda A, Mundel P, Margolis B (2002) Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1. J Biol Chem 277:30183–30190. https://doi.org/10.1074/jbc.M203072200

    CAS  Article  PubMed  Google Scholar 

Download references

Acknowledgements

We would like to thank the Nephrology and Genetic Units staff and all employees of the Y.Veltischev Research and Clinical Institute for Pediatrics participating in the patient’s survey.

Funding

Not applicable.

Author information

Affiliations

Authors

Contributions

All authors contributed to the conception of the work, data collection and analysis, critical revising and final approval of the manuscript. NZ and TL performed renal assessment. The first draft of the manuscript was written by MA and all authors commented on previous versions of the manuscript.

Corresponding author

Correspondence to Marina Aksenova.

Ethics declarations

Conflict of interest

No conflict of interest.

Ethics approval

The study was performed in line with the principles of the Declaration of Helsinki and approved by Y.Veltischev Research and Clinical Institute for Pediatrics at N.Pirogov Russian National Research Medical University Ethics Committee (24/06/2020).

Consent to participate

Written informed consent to participate was obtained from the parents.

Consent to publish

The parents have consented to the submission of the case report to the journal.

Code availability

Not applicable.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary file1 (DOC 61 kb)

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Aksenova, M., Zaikova, N. & Lepaeva, T. Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.. J Nephrol (2021). https://doi.org/10.1007/s40620-020-00890-2

Download citation