title: [From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia].
abstract: Congenital amegakaryocytic thrombocytopenia (CAMT) is an uncommon cause of thrombocytopenia in children. CAMT is characterised by an isolated thrombocytopenia and the near absence of megakaryocytes in the bone marrow. The gene involved in the development of CAMT has recently been described. In a number of CAMT patients, mutations in the thrombopoietin (Tpo) receptor gene, c-mpl, were found to be the likely cause of the thrombocytopenia and the complete bone marrow failure that most patients develop. Measurement of Tpo plasma levels and a study of the megakaryocytopoiesis in vitro, may add to the diagnosis. At present the only curative treatment is allogeneic bone marrow transplantation.
authors.affiliation: Centraal Laboratorium van de Bloedtransfusiedienst, afd. Immunohematologie Experimenteel, Postbus 9190, 1006 AD Amsterdam.
authors.forename: S
authors.initials: S
authors.lastname: van den Oudenrijn
authors.forename: M
authors.initials: M
authors.lastname: Bruin
authors.forename: M
authors.initials: M
authors.lastname: de Haas
authors.forename: A E G Kr
authors.initials: AE
authors.lastname: von dem Borne
mesh_terms: D016026:Bone Marrow Transplantation; D002648:Child; D006801:Humans; D008533:Megakaryocytes / Q000166:cytology; D009154:Mutation; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics / Q000628:therapy; D013926:Thrombopoietin / Q000378:metabolism
chemical_list: D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D013926:Thrombopoietin