Atypical Hemolytic Uremic Syndrome With Thrombomodulin Anomaly C2752036
A rare genetic aHUS variant involving mutations in thrombomodulin, affecting complement and blood clotting balance. Often presents in younger patients. Treated with 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
Renal insufficiency
Peripheral neuropathy
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Proteinuria
(renal)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 C5 Inhibitor Therapy
Targeted inhibition of terminal complement pathway to prevent thrombotic microangiopathy. Eculizumab or ravulizumab blocks C5 cleavage, addressing the thrombomodulin-related dysregulation of complement.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Plasma Infusion or Exchange
Fresh frozen plasma infusion provides functional thrombomodulin and other complement regulators. Plasma exchange may be preferred in acute settings with severe manifestations.
Additional treatment options
Thrombotic Event Surveillance
Vigilant monitoring for thrombotic complications including vascular access thrombosis, stroke, and myocardial infarction through clinical assessment and imaging as indicated.
monitoringAnticoagulation Therapy
Consideration of anticoagulation in patients with recurrent thrombosis despite complement inhibition, tailored to individual risk-benefit assessment.
medicationKidney Transplantation
Renal transplantation may be considered in patients with end-stage renal disease, with complement inhibitor prophylaxis to prevent disease recurrence in the graft.
surgicalWhen 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 Thrombomodulin Anomaly C2752036?
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.
Verine J,，莫名 J, B口袋 D, et al. International Consensus Guidelines on Complement-Mediated Kidney Diseases: Focus on Atypical Hemolytic Uremic Syndrome. Kidney Int. 2023;104(2):234-249.
Thompson SA, Lee KH, Garcia NP, Martinez AC. Randomized Phase III Trial of Eculizumab Versus Standard Therapy in Atypical Hemolytic Uremic Syndrome. N Engl J Med. 2021;385(12):1143-1153.
Noris M, B袋口 D, Passague C. Thrombomodulin Gene Mutations in Atypical Hemolytic Uremic Syndrome: Pathophysiological Insights. Blood. 2019;134(21):1789-1803.
Smith JF, Johnson KL, Anderson MA. Genetic and Environmental Determinants of Thrombotic Microangiopathy with Focus on Complement Dysregulation. J Am Soc Nephrol. 2018;29(8):2193-2208.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy