title: Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
abstract: Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. Most of the patients develop a severe aplastic anemia and trilineage cytopenia during the first years of life and hematopoietic stem cell transplantation is the only curative treatment. In most of the cases the disease is caused by homozygous or compound heterozygous mutations in the gene  MPL encoding the receptor for the hematopoietic growth factor thrombopoietin. The present review summarizes clinical and laboratory data for 96 patients with CAMT, reported since 1990.
authors.affiliation: Department of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany. Ballmaier.Matthias@mh-hannover.de
authors.forename: Matthias
authors.initials: M
authors.lastname: Ballmaier
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis; D000080984:Congenital Bone Marrow Failure Syndromes; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010198:Pancytopenia / Q000175:diagnosis; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D016896:Treatment Outcome
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human