Download PDF
Thromb Haemost 2015; 114(04): 862-863
DOI: 10.1160/TH15-01-0007
Letters to the Editor
Schattauer GmbH

Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations

Toshiyuki Miyata
1   Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan
,
Yumiko Uchida
1   Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan
,
Toshiyuki Ohta
2   Department of Pediatric Nephrology, Hiroshima Prefectural Hospital, Hiroshima, Japan
,
Kohtaro Urayama
2   Department of Pediatric Nephrology, Hiroshima Prefectural Hospital, Hiroshima, Japan
,
Yoko Yoshida
3   Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan
,
Yoshihiro Fujimura
3   Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan
› Author Affiliations Financial support: This work was supported in part by grants-in-aid from the Ministry of Health, Labour and Welfare of Japan, the Japan Society for the Promotion of Science, and the Takeda Science Foundation.
Further Information

Publication History

Received: 06 January 2015

Accepted after major revision: 23 April 2015

Publication Date:
29 November 2017 (online)

    Permissions and Reprints

 

 

  • References

  • 1 Lemaire M, Fremeaux-Bacchi V, Schaefer F. et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 2013; 45: 531-536.
    CrossrefPubMedGoogle Scholar
  • 2 Sanchez Chinchilla D, Pinto S, Hoppe B. et al. Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2014; 9: 1611-1619.
    CrossrefPubMedGoogle Scholar
  • 3 Ozaltin F, Li B, Rauhauser A. et al. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol 2013; 24: 377-384.
    CrossrefPubMedGoogle Scholar
  • 4 Westland R, Bodria M, Carrea A. et al. Phenotypic expansion of DGKE-associated diseases. J Am Soc Nephrol 2014; 25: 1408-1414.
    CrossrefPubMedGoogle Scholar
  • 5 George JN, Nester CM. Syndromes of thrombotic microangiopathy. N Engl J Med 2014; 371: 654-666.
    CrossrefPubMedGoogle Scholar
  • 6 Bruneau S, Neel M, Roumenina LT. et al. Loss of DGK induces endothelial cell activation and death independently of complement activation. Blood 2015; 125: 1038-1046.
    CrossrefPubMedGoogle Scholar
  • 7 Fujimura Y, Matsumoto M, Isonishi A. et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost 2011; 9 (Suppl. 01) 283-301.
    CrossrefPubMedGoogle Scholar
  • 8 Fan X, Yoshida Y, Honda S. et al. Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome. Mol Immunol 2013; 54: 238-246.
    CrossrefPubMedGoogle Scholar
  • 9 Matsumoto T, Fan X, Ishikawa E. et al. Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation. Int J Hematol 2014; 100: 437-442.
    CrossrefPubMedGoogle Scholar
  • 10 Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    CrossrefPubMedGoogle Scholar
  • 11 Adzhubei IA, Schmidt S, Peshkin L. et al. A method and server for predicting damaging mis-sense mutations. Nat Methods 2010; 7: 248-249.
    CrossrefPubMedGoogle Scholar
  • 12 Ohta T, Urayama K, Tada Y. et al. Eculizumab in the treatment of atypical hemolytic uremic syndrome in an infant leads to cessation of peritoneal dialysis and improvement of severe hypertension. Pediatr Nephrol 2015; 30: 603-608.
    CrossrefPubMedGoogle Scholar