Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

DGKE and atypical HUS

A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.

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

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Model for DGKE-associated nephropathy.

Katie Vicari

References

  1. Warwicker, P. et al. Kidney Int. 53, 836–844 (1998).

    Article  CAS  Google Scholar 

  2. Noris, M. & Remuzzi, G. N. Engl. J. Med. 361, 1676–1687 (2009).

    Article  CAS  Google Scholar 

  3. Lemaire, M. et al. Nat. Genet. 45, 531–536 (2013).

    Article  CAS  Google Scholar 

  4. Delvaeye, M. et al. N. Engl. J. Med. 361, 345–357 (2009).

    Article  CAS  Google Scholar 

  5. Dragon-Durey, M.A. et al. J. Am. Soc. Nephrol. 16, 555–563 (2005).

    Article  CAS  Google Scholar 

  6. Dragon-Durey, M.A. et al. J. Med. Genet. 46, 447–450 (2009).

    Article  CAS  Google Scholar 

  7. Chatelet, V. et al. Am. J. Transplant. 9, 2644–2645 (2009).

    Article  CAS  Google Scholar 

  8. Nürnberger, J. et al. N. Engl. J. Med. 360, 542–544 (2009).

    Article  Google Scholar 

  9. Ozaltin, F. et al. J. Am. Soc. Nephrol. 24, 377–384 (2013).

    Article  CAS  Google Scholar 

  10. Eremina, V. et al. N. Engl. J. Med. 358, 1129–1136 (2008).

    Article  CAS  Google Scholar 

  11. Nunn, D.L. & Watson, S.P. Biochem. J. 243, 809–813 (1987).

    Article  CAS  Google Scholar 

  12. Tryggvason, K., Patrakka, J. & Wartiovaara, J. N. Engl. J. Med. 354, 1387–1401 (2006).

    Article  CAS  Google Scholar 

  13. Winn, M.P. et al. Science 308, 1801–1804 (2005).

    Article  CAS  Google Scholar 

  14. Reiser, J. et al. Nat. Genet. 37, 739–744 (2005).

    Article  CAS  Google Scholar 

  15. Hinkes, B. et al. Nat. Genet. 38, 1397–1405 (2006).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Susan E Quaggin.

Ethics declarations

Competing interests

The author declares no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Quaggin, S. DGKE and atypical HUS. Nat Genet 45, 475–476 (2013). https://doi.org/10.1038/ng.2622

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.2622

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing