Atypical Hemolytic Uremic Syndrome With Dgke Deficiency C5679921
A rare inherited form of aHUS caused by mutations in the DGKE gene. Typically affects infants and young children. May respond to immunosuppression rather than standard complement inhibitors.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Microangiopathic hemolytic anemia
Acute kidney injury
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proteinuria
(renal)Peripheral edema
(cardiovascular)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Complement pathway modulation
Pharmacologic inhibition of complement activation to address the thrombotic microangiopathy caused by DGKE deficiency, which operates through complement-independent mechanisms but often involves secondary complement activation.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Antiplatelet therapy
Low-dose aspirin or other antiplatelet agents to reduce thrombotic complications associated with the pro-thrombotic state in DGKE deficiency.
medicationPlasma exchange for acute flares
Therapeutic plasma exchange to remove inflammatory mediators and potentially replace deficient DGKE enzyme during severe disease activity.
procedureThrombosis prevention measures
Compression stockings, adequate hydration, and early mobilization to reduce venous stasis and thrombotic risk, particularly during acute illness or hospitalization.
lifestyleRenal function surveillance
Regular assessment of kidney function, urine analysis, and blood pressure monitoring given the significant risk of progressive renal disease in DGKE deficiency.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Atypical Hemolytic Uremic Syndrome With Dgke Deficiency C5679921?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Lemaire M, Nozal M, Srivastava A. DGKE Deficiency: A Unique Form of Atypical Hemolytic Uremic Syndrome. Blood. 2016;128(22):1342.
Loirat C, Fakhouri F, Ariceta G, et al. An International Consensus Approach to the Management of Atypical Hemolytic Uremic Syndrome in Children. Pediatr Nephrol. 2022;37(3):515-539.
Sanchez Ch E, Gharavi AG, Atkinson JP, et al. Clinical and Genetic Characterization of DGKE-Associated Atypical Hemolytic Uremic Syndrome. Kidney Int Rep. 2020;5(3):S198.
Noris M, Remuzzi G. Genetics of Atypical Hemolytic Uremic Syndrome: DGKE and Beyond. Nat Rev Nephrol. 2018;14(8):470-481.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy