title: Hemolysis in a patient with alkaptonuria and chronic kidney failure.
abstract: In alkaptonuria, the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid (HGA) in the body. Fatal disease cases are infrequent, and death often results from kidney or cardiac complications. We report a 24-year-old alkaptonuric man with severe decreased kidney function who developed fatal metabolic acidosis and intravascular hemolysis. Hemolysis may have been caused by rapid and extensive accumulation of HGA and subsequent accumulation of plasma soluble melanins. Toxic effects of plasma soluble melanins, their intermediates, and reactive oxygen side products are increased when antioxidant mechanisms are overwhelmed. A decrease in serum antioxidative activity has been reported in patients with chronic decreased kidney function. However, despite administration of large doses of an antioxidant agent and ascorbic acid and intensive kidney support, hemolysis and acidosis could not be brought under control and hemolysis led to the death of the patient.
authors.affiliation: Service de Néphrologie Réanimation Médicale, Pole REUNNIRH, Clermont-Ferrand, France.
authors.forename: Anne-Elisabeth
authors.initials: AE
authors.lastname: Heng
authors.forename: Marie
authors.initials: M
authors.lastname: Courbebaisse
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Kemeny
authors.forename: Raluca
authors.initials: R
authors.lastname: Matesan
authors.forename: Claude
authors.initials: C
authors.lastname: Bonniol
authors.forename: Patrice
authors.initials: P
authors.lastname: Deteix
authors.forename: Bertrand
authors.initials: B
authors.lastname: Souweine
mesh_terms: D000474:Alkaptonuria / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D017809:Fatal Outcome; D006461:Hemolysis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D055815:Young Adult