Overview
Hemolytic uremic syndrome with DGKE deficiency (also called DGKE-associated atypical hemolytic uremic syndrome or DGKE-aHUS) is a rare genetic kidney disease that typically begins in infancy or early childhood. It is caused by mutations in the DGKE gene, which provides instructions for making an enzyme called diacylglycerol kinase epsilon. When this enzyme does not work properly, it leads to problems with blood clotting in the small blood vessels of the kidneys and sometimes other organs. The hallmark features of this condition include three main problems that occur together: hemolytic anemia (where red blood cells break apart faster than normal), low platelet counts (thrombocytopenia, which affects blood clotting), and acute kidney injury. Children with this disease often experience repeated episodes of these problems, which can progressively damage the kidneys over time. Many patients also develop significant protein in the urine (nephrotic-range proteinuria) and high blood pressure between episodes, which is somewhat unique compared to other forms of atypical HUS. Treatment focuses on managing acute episodes and protecting kidney function long-term. Unlike other forms of atypical HUS caused by complement system problems, DGKE-related HUS does not typically respond to complement-blocking therapies like eculizumab. Supportive care includes blood transfusions, blood pressure control, and medications to reduce protein loss in the urine. Some patients eventually require dialysis or kidney transplantation if kidney function declines significantly. Research is ongoing to better understand this condition and develop more targeted treatments.
Also known as:
Key symptoms:
Episodes of red blood cell destruction (hemolytic anemia) causing pale skin and fatigueLow platelet count leading to easy bruising or bleedingAcute kidney injury with decreased urine outputProtein in the urine (sometimes large amounts)High blood pressureSwelling in the legs, feet, or around the eyesBlood in the urineFatigue and low energyPoor appetite during episodesProgressive kidney function decline over timeIrritability in infants during acute episodesFever or illness triggering episodes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hemolytic uremic syndrome with DGKE deficiency.
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Specialists
View all specialists →No specialists are currently listed for Hemolytic uremic syndrome with DGKE deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hemolytic uremic syndrome with DGKE deficiency.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's kidney function right now, and how do we track it over time?,What signs should I watch for that would mean we need to come to the emergency room?,Are there medications that can help protect my child's kidneys between episodes?,Is eculizumab or any complement-blocking therapy recommended for my child's specific type of HUS?,What is the likelihood that my child will eventually need dialysis or a kidney transplant?,Should other family members be tested for DGKE mutations?,Are there any clinical trials or new treatments being studied for DGKE-related HUS?
Common questions about Hemolytic uremic syndrome with DGKE deficiency
What is Hemolytic uremic syndrome with DGKE deficiency?
Hemolytic uremic syndrome with DGKE deficiency (also called DGKE-associated atypical hemolytic uremic syndrome or DGKE-aHUS) is a rare genetic kidney disease that typically begins in infancy or early childhood. It is caused by mutations in the DGKE gene, which provides instructions for making an enzyme called diacylglycerol kinase epsilon. When this enzyme does not work properly, it leads to problems with blood clotting in the small blood vessels of the kidneys and sometimes other organs. The hallmark features of this condition include three main problems that occur together: hemolytic anemia
How is Hemolytic uremic syndrome with DGKE deficiency inherited?
Hemolytic uremic syndrome with DGKE deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hemolytic uremic syndrome with DGKE deficiency typically begin?
Typical onset of Hemolytic uremic syndrome with DGKE deficiency is infantile. Age of onset can vary across affected individuals.