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

Thromb Haemost. 2015 Oct;114(4):862-3. doi: 10.1160/TH15-01-0007. Epub 2015 May 28.

Authors

Toshiyuki Miyata¹, Yumiko Uchida, Toshiyuki Ohta, Kohtaro Urayama, Yoko Yoshida, Yoshihiro Fujimura

Affiliation

¹ Dr. Toshiyuki Miyata, Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka 565-8565, Japan, Tel.: +81 6 6833 5012, Fax: +81 6 6835 1176, E-mail: miyata@ncvc.go.jp.

PMID: 26018111
DOI: 10.1160/TH15-01-0007

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Antibodies, Monoclonal, Humanized / therapeutic use
Asian People / genetics*
Atypical Hemolytic Uremic Syndrome / diagnosis
Atypical Hemolytic Uremic Syndrome / drug therapy
Atypical Hemolytic Uremic Syndrome / enzymology
Atypical Hemolytic Uremic Syndrome / ethnology
Atypical Hemolytic Uremic Syndrome / genetics*
Child, Preschool
DNA Mutational Analysis
Databases, Factual
Diacylglycerol Kinase / genetics*
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Hypertension / enzymology
Hypertension / ethnology
Hypertension / genetics
Infant
Infant, Newborn
Japan
Male
Mutation, Missense*
Phenotype
Treatment Outcome

Substances

Antibodies, Monoclonal, Humanized
eculizumab
DGKE protein, human
Diacylglycerol Kinase