title: [A child with relapsing haemolytic anemia and thrombocytopenia].
abstract: A newborn Norwegian girl of non-consanguineous parents developed petechial bleeding, severe thrombocytopenia, and hyperbilirubinemia within 24 hours of birth. Severe anemia, macroscopic hematuria, and elevated creatinine developed during the first week of life. She was treated with blood transfusions and intravenous immunoglobulins. At the age of 9 months, she developed petechiae and jaundice during the course of an upper respiratory tract infection, and was readmitted to hospital. Thrombocytopenia was discovered and she received intravenous immunoglobulins. During the following months the girl was repeatedly seen at the paediatric outpatient clinic for petechial bleeding and moderate thrombocytopenia. At the age of 20 months, ADAMTS (a metalloprotease-disintegrin with thrombospondin type 1 domains)-13 activity was found to be absent. No inhibitor was detected in her plasma. Both parents and her younger sister had ADAMTS-13 activity of 50 %, establishing the diagnosis of severe congenital ADAMTS-13 deficiency. She is now treated with fresh frozen plasma infusions every 14 days.
  
  
  CONCLUSIONS
  Assay of ADAMTS-13 helps to diagnose a form of thrombotic thrombocytopenic purpura which may be managed by prophylactic treatment with fresh frozen plasma.
authors: Barneavdelingen, Alesund sjukehus, 6026 Alesund. sashagulati@hotmail.com
authors: Sasha
authors: S
authors: Gulati
authors: Elisabeth
authors: E
authors: Siebke
authors: Agnete Malm
authors: AM
authors: Gamlem
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency* / Q000235:genetics; D000071120:ADAMTS13 Protein; D016913:Blood Component Transfusion; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011697:Purpura, Thrombotic Thrombocytopenic / Q000097:blood / Q000175:diagnosis / Q000628:therapy; D012008:Recurrence; D013921:Thrombocytopenia / Q000175:diagnosis
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human