Hemolytic uremic syndrome with DGKE deficiency
ORPHA:357008· ICD-10 D58.8
Definition
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy