title: Congenital amegakaryocytic thrombocytopenia.
abstract: Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a child without congenital or skeletal malformations, reduced or absent bone marrow megakaryocytes, and eventual progression to bone marrow failure. Molecular studies in most cases confirm homozygous or compound heterozygous mutations in the thrombopoietin receptor c-Mpl. In addition to the clinical importance of recognizing this disorder, characterization of mutations identified in patients with CAMT has led to insights into thrombopoietin receptor structure and function. This review will summarize the diagnosis, pathophysiology, and management of CAMT.
authors.affiliation: Pediatric Hematology-Oncology, University of California San Diego, Rady Children's Hospital San Diego, San Diego, California 92123, USA. ageddis@ucsd.edu
authors.forename: Amy E
authors.initials: AE
authors.lastname: Geddis
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008533:Megakaryocytes; D009154:Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human