What is it?
Atypical Hemolytic Uremic Syndrome (aHUS) is a rare disease characterized by the formation of abnormal blood clots in the small blood vessels, particularly in the kidneys. It is a life-threatening condition that primarily affects kidney function but can also impact other organs. The exact cause of aHUS is often related to dysregulation of the complement system, which is responsible for the body’s immune response. This dysregulation can be due to inherited genetic mutations or acquired autoantibodies against complement proteins.
What are its symptoms?
The main symptoms of aHUS include hemolytic anemia (breakdown of red blood cells), thrombocytopenia (low platelet count), and acute kidney failure. These symptoms can lead to complications such as fatigue, pale skin, jaundice, blood in urine, high blood pressure, and fluid retention. It is important to note that aHUS can occur at any age, from infancy to adulthood.
What do I need to consider?
Diagnosing aHUS involves clinical evaluation, laboratory tests to assess kidney function and complement levels, and genetic testing to identify underlying genetic mutations. Treatment options for aHUS may include plasma exchange or plasma infusion to remove abnormal complement proteins, complement inhibitors to prevent complement overactivation, and kidney transplantation in severe cases of kidney failure.
It is crucial for individuals with aHUS to receive prompt and appropriate medical care to prevent further organ damage and improve outcomes. Collaborative management involving nephrologists, hematologists, and other specialists is often necessary. Regular monitoring of kidney function and close follow-up with healthcare professionals are important for long-term management of the condition.
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References
- Atypical hemolytic uremic syndrome: MedlinePlus Genetics.
- Atypical Hemolytic Uremic Syndrome | NORD.
- Atypical hemolytic uremic syndrome – About the Disease. National Institutes of Health (NIH).
- Atypical Hemolytic Uremic Syndrome – PMC – NCBI.
- Atypical hemolytic uremic syndrome – Wikipedia