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Heterogeneity of erythropoietin‐dependent erythrocytosis: case report in a child and synopsis of primary erythrocytosis syndromes
Author(s) -
Kulkarni Vivekanand,
Ritchey Kim,
Howard Donald,
Dainiak Nicholas
Publication year - 1985
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1985.tb07479.x
Subject(s) - erythropoietin , polycythaemia , erythropoiesis , medicine , phlebotomy , pathogenesis , endocrinology , erythropoietin receptor , immunology , anemia
S ummary To investigate the pathogenesis of polycythaemia in a child with isolated, primary erythrocytosis, we measured serum erythropoietin activity and in vitro erythroid progenitor cell responsiveness to erythropoietin. Unstimulated erythropoietin activity was markedly elevated (1.8 IU/ml), and isovolaemic phlebotomy induced a four‐fold increment above this level. In contrast to findings in our index case with this syndrome, normal erythroid colony growth patterns were present in patient marrow cultures. The primary mechanism of polycythaemia in this individual is similar to that reported in the index case: an inappropriately elevated regulatory set point for erythropoietin production. Since an additional defect of progenitor cell hypersensitivity to erythropoietin is not always present, we conclude that abnormalities at single or multiple sites of the erythropoietic regulatory axis may occur in primary erythropoietin‐dependent erythrocytosis.