Child Kidney Dis.  2022 Jun;26(1):58-62. 10.3339/ckd.22.024.

Recurrent hemolytic uremic syndrome caused by DGKE gene mutation: a case report

• Shin BS
• Ahn YH
• Kang HG

• KMID: 2531936
• DOI: http://doi.org/10.3339/ckd.22.024

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury without any association with preceding diarrhea. Dysregulation of the complement system is the most common cause of aHUS, and monoclonal humanized anti-C5 antibodies are now recommended as the first-line treatment for aHUS. However, if the complement pathway is not the cause of aHUS, C5 inhibitors are ineffective. In this study, we report the second reported case of aHUS caused by DGKE mutations in Republic of Korea. The patient was an 11-month-old infant who presented with prodromal diarrhea similar to typical HUS, self-remitted with conservative management unlike complement-mediated aHUS but recurred with fever. While infantile aHUS often implies genetic dysregulation of the complement system, other rare genetic causes, such as DGKE mutation, need to be considered before deciding long-term treatment with C5 inhibitors.

Keyword

Atypical hemolytic uremic syndrome; Thrombotic microangiopathy; CFH; DGKE; Eculizumab

Figure

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  Fig. 1. Pathologic findings. (A) Electron microscopy image. Diffuse thickened glomerular basement membrane and focal slight effacement of foot process were marked with red arrows. (B) Electron microscopy image. Subendothelial widening and mesangial interposition were marked with blue circle. (C) Periodic acid-Schiff staining image (×500). Endothelial cells were mildly hypercellular in the glomerulus and glomerular size was mildly increased (marked with black arrow). Some glomerulus showed tram-track appearance (marked with green arrowheads).

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  Fig. 2. Laboratory data. Fever events are annotated with red arrows. Hb, hemoglobin; UPCR, urine protein/creatinine ratio.

Reference

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