CAMT – pro

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. The problem is an absence of a receptor for thrombopoietin. There is not curative option at thsi time other than allogeneic transpalnt. This is a rare condition for which there are no prospective trials and none are possible. However, from the reported cases it is clear that the only care options are platelet transfusions, to which eventually the patient becomes refractory, or stem cell transplantation.

Amy E. Geddis Congenital amegakaryocytic thrombocytopenia Pediatric BLood Cancer
Article first published online: 18 FEB 2011 DOI: 10.1002/pbc.22927

King S, Germeshausen M, Strauss G, Welte K, Ballmaier M (December 2005). “Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients”. Br. J. Haematol. 131 (5): 636–44.

Rose MJ, Nicol KK, Skeens MA, Gross TG, Kerlin BA (June 2008). “Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics”. Pediatr Blood Cancer 50 (6): 1263–5.

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