Hemolytic uremic syndrome with DGKE deficiency

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Synonyms: HUS with DGKE deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Clinical Trials

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