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BRIEF REPORT
Year : 2019  |  Volume : 2  |  Issue : 2  |  Page : 101-103

Atypical hemolytic uremic syndrome with diacylglycerol kinase epsilon (DGKE) gene mutation


1 Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Nephrology, All India Institute of Medical Sciences, New Delhi, India
2 Division of Pediatric Nephrology, Department of Nephrology, Kidney and Urology Institute, Medanta The Medicity Hospital, Gurugram, Haryana, India

Correspondence Address:
Arvind Bagga
Department of Pediatrics, ICMR Center for Advanced Research in Nephrology, Division of Nephrology, All India Institute of Medical Sciences, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_27_19

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Atypical hemolytic uremic syndrome (aHUS), an important cause of acute kidney injury requiring dialysis in children, is caused by defects in genes encoding the alternative complement pathway. Mutations in noncomplement-related genes are rare, information of therapy and outcome of such patients is limited. We describe a 13-month-old boy with aHUS as a result of compound heterozygous mutations in diacylglycerol kinase gene, possibly triggered by enteroinvasive Escherichia coli infection, with partial response to plasma exchanges. The present case emphasizes the need for a high index of suspicion, appropriate investigation for etiology of the infective trigger, and good supportive care in the management of rare causes of aHUS.


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