title: Improving circulatory disturbance in transient abnormal myelopoiesis.
abstract: Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) is characterized by circulating blast cells in the blood. TAM usually resolves spontaneously, but several studies have associated this condition with early death, focusing on the development of effective treatments. We report the case of a neonate with DS who had TAM and novel GATA1 mutation. Although the patient eventually died of hepatic failure, exchange blood transfusion and low-dose cytarabine treatment dramatically improved pulmonary hypertension and acute renal failure refractory to conventional therapy. Such a blast-reducing approach might be useful for improving circulatory disturbances in neonates with DS and TAM.
authors: Department of Pediatrics, National Hospital Organization Beppu Medical Center, Oita, Japan. sakuraliberty@beppu2.hosp.go.jp
authors: Hiroshi
authors: H
authors: Koga
authors: Kenichi
authors: K
authors: Miyako
authors: Naohiro
authors: N
authors: Suga
authors: Tomoko
authors: T
authors: Hidaka
authors: Noboru
authors: N
authors: Takahashi
mesh_terms: D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage*; D001803:Blood Transfusion; D003561:Cytarabine / Q000008:administration & dosage*; D004314:Down Syndrome / Q000150:complications / Q000235:genetics / Q000628:therapy*; D017809:Fatal Outcome; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics / Q000628:therapy*; D017093:Liver Failure / Q000150:complications / Q000235:genetics / Q000628:therapy*; D008297:Male; D009154:Mutation; D038042:Myelopoiesis; D051437:Renal Insufficiency / Q000150:complications / Q000235:genetics / Q000628:therapy
chemical_list: D000964:Antimetabolites, Antineoplastic; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D003561:Cytarabine