title: Hemolytic uremic syndrome associated with Denys-Drash syndrome.
abstract: The Denys-Drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms' tumor, and constitutional mutations in the WT1 suppressor gene. Most patients develop end-stage renal failure. Atypical hemolytic uremic syndrome (HUS) is defined by onset of acute hemolytic anemia with fragmented erythrocytes, thrombocytopenia, and renal failure in the absence of a gastrointestinal prodromal illness of bloody diarrhea. The purpose of this report is to describe the occurrence of features of atypical HUS and Denys-Drash syndrome in two African-American boys aged 13 and 16 months. Each had nephrotic syndrome, diffuse mesangial sclerosis, and WT1 point mutations. Both had grade III hypospadias and undescended testes. They had normal serum creatinine concentrations and hematology a month before presenting with HUS. Stool cultures for Escherichia coli O157:H7 were negative. Each patient has been transplanted with cadaver kidneys without recurrence of HUS.
authors.affiliation: Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, 19104, USA.
authors.forename: J R
authors.initials: JR
authors.lastname: Sherbotie
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: R
authors.initials: R
authors.lastname: Axton
authors.forename: K
authors.initials: K
authors.lastname: Williamson
authors.forename: L S
authors.initials: LS
authors.lastname: Finn
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
mesh_terms: D001483:Base Sequence / Q000235:genetics; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development / Q000150:complications*; D005920:Glomerular Mesangium / Q000473:pathology; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000473:pathology; D006463:Hemolytic-Uremic Syndrome / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009404:Nephrotic Syndrome / Q000150:complications*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000150:complications* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins; D004247:DNA