Atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening, genetic disease that predominantly affects the kidney. It is characterized by the triad of hemolytic anemia, thrombocytopenia, and renal failure.
Etiology[edit | edit source]
aHUS is primarily caused by mutations in genes that regulate the complement system, a part of the body's immune system. The most common mutations are found in the genes for Factor H, Factor I, and Membrane Cofactor Protein (MCP). These mutations lead to uncontrolled activation of the complement system, resulting in damage to the endothelial cells lining the blood vessels, particularly in the kidneys.
Clinical Presentation[edit | edit source]
Patients with aHUS often present with symptoms of fatigue, pallor, and decreased urine output, indicative of anemia and renal failure. Laboratory findings typically show evidence of hemolytic anemia, thrombocytopenia, and elevated creatinine levels, reflecting kidney damage.
Diagnosis[edit | edit source]
Diagnosis of aHUS is based on clinical presentation, laboratory findings, and genetic testing. It is important to differentiate aHUS from other forms of Thrombotic Microangiopathies (TMAs), such as Shiga toxin-producing E. coli Hemolytic Uremic Syndrome (STEC-HUS) and Thrombotic Thrombocytopenic Purpura (TTP), as the treatment and prognosis differ significantly.
Treatment[edit | edit source]
The mainstay of treatment for aHUS is Eculizumab, a monoclonal antibody that inhibits the terminal complement pathway. This drug has been shown to improve renal function and hematologic parameters in patients with aHUS. In severe cases, renal transplantation may be considered.
Prognosis[edit | edit source]
Without treatment, aHUS can lead to end-stage renal disease and is associated with high mortality. However, with early diagnosis and appropriate treatment, the prognosis can be significantly improved.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Atypical hemolytic uremic syndrome is a rare disease.
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