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Congenital amegakaryocytic thrombocytopenic purpura [CAMT]
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2014; 24 (4): 285-287
in English | IMEMR | ID: emr-142092
ABSTRACT
Congenital amegakaryocytic thrombocytopenia [CAMT] is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin [TPO] receptor [c-MPL] despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone.
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Index: IMEMR (Eastern Mediterranean) Main subject: Pancytopenia / Bone Marrow Transplantation / Receptors, Thrombopoietin / Mutation Type of study: Case report Limits: Female / Humans Language: English Journal: J. Coll. Physicians Surg. Pak. Year: 2014

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Index: IMEMR (Eastern Mediterranean) Main subject: Pancytopenia / Bone Marrow Transplantation / Receptors, Thrombopoietin / Mutation Type of study: Case report Limits: Female / Humans Language: English Journal: J. Coll. Physicians Surg. Pak. Year: 2014