title: Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.
abstract: Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Besides diarrhea-associated HUS, due to verotoxin-producing Escherichia coli, in children HUS without prodromal diarrhea may be associated with other infectious and autoimmune diseases, genetic defects of the complement-regulator alternative-pathway, and inborn errors of vitamin B12 metabolism. Rhabdomyolysis is the dissolution of skeletal muscle due to various causes, including inborn errors of metabolism. Recurrent rhabdomyolysis and HUS have been previously described in one patient with a genetic defect of oxidative phosphorylation. We report the case of a 2-year-old boy with recurrent HUS and rhabdomyolysis in whom a succinate coenzyme Q reductase (complex II) deficiency was diagnosed. We hypothesize that defects of oxidative phosphorylation could be another etiological factor in atypical HUS.
authors: Pediatric Nephrology, Department of Pediatrics, University of Florence, Meyer Hospital, Florence, Italy.
authors: M V
authors: MV
authors: Micheletti
authors: G
authors: G
authors: Lavoratti
authors: S
authors: S
authors: Gasperini
authors: M A
authors: MA
authors: Donati
authors: I
authors: I
authors: Pela
mesh_terms: D002675:Child, Preschool; D042963:Electron Transport Complex II / Q000172:deficiency*; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000473:pathology
chemical_list: D042963:Electron Transport Complex II