Management

There is no established DGKE-specific therapy. Acute presentations should be managed with supportive care, including treatment of acute kidney injury, severe hypertension, fluid and electrolyte abnormalities, anemia, and dialysis when required.

Because DGKEnephropathy can mimic complement-mediated aHUS, some patients have been treated with plasma infusion/exchange, eculizumab, or immunosuppression. Available evidence suggests that the benefit of these therapies is inconsistent. Acute improvement with plasma therapy has been reported in some patients, but relapses still occur, and relapses during regular eculizumab therapy have also been documented. Overall, conventional disease-specific therapies appear to offer little benefit, and complement blockade does not prevent recurrence. Genetic confirmation is essential to avoid prolonged or unnecessary complement blockade. It is also important to offer early genetic testing for siblings.

Long-term care should focus on:
•    Monitoring kidney function
•    Monitoring proteinuria and hematuria
•    Aggressive blood pressure control
•    Reduction of proteinuria, often with ACE inhibitors and/or ARBs
•    Surveillance for CKD progression and relapse

Kidney transplantation is an appropriate option for end-stage kidney disease. Reported experience to date suggests little or no post-transplant recurrence in isolated DGKEnephropathy.