Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

• Main Authors: Soraya Gholizad-kolveiri (Author), Nakysa Hooman (Author), Rasoul Alizadeh (Author), Rozita Hoseini (Author), Hasan Otukesh (Author), Saeed Talebi (Author), Mansoureh Akouchekian (Author)
• Format: Book
• Published: BMC, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in n...