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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Figure 1: Model for DGKE-associated nephropathy.

Katie Vicari

References

  1. 1

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

  2. 2

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

  3. 3

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

  4. 4

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

  5. 5

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

  6. 6

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

  7. 7

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

  8. 8

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

  9. 9

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

  10. 10

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

  11. 11

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

  12. 12

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

  13. 13

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

  14. 14

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

  15. 15

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

Download references

Author information

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

Further reading