GTR Home > Conditions/Phenotypes > Atypical hemolytic-uremic syndrome 3

Disease characteristics

Excerpted from the GeneReview: Atypical Hemolytic-Uremic Syndrome
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. Typical (acquired) HUS is triggered by infectious agents such as strains of E. coli (Stx-E. coli) that produce powerful Shiga-like exotoxins, whereas atypical HUS (aHUS) can be genetic, acquired, or idiopathic (of unknown cause). Onset of atypical HUS ranges from prenatal to adulthood. Individuals with genetic atypical HUS frequently experience relapse even after complete recovery following the presenting episode. Sixty percent of genetic aHUS progresses to end-stage renal disease (ESRD).

Associated genes

Clinical features

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  • Hematuria
  • Proteinuria
  • Thrombocytopenia
  • Hypertension
  • Acute kidney injury
  • Microangiopathic hemolytic anemia
  • Increased blood urea nitrogen (BUN)
  • Elevated serum creatinine
  • Anuria
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