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Annals of Hematology
Published in: Annals of Hematology 3/2005

01-03-2005 | Review Article

Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment

Author: H. Cario

Published in: Annals of Hematology | Issue 3/2005

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Abstract

Polycythemias or erythrocytoses in childhood and adolescence are very rare. Systematic data on the clinical presentation and laboratory evaluations as well as on treatment regimens are sparse. The diagnostic program in absolute erythrocytosis includes extensive clinical, hematological, biochemical, and molecular biological examinations which should be applied following a stepwise algorithm. Absolute erythrocytoses are usually subdivided into primary and secondary forms. Primary erythrocytosis is a condition in which the erythropoietic compartment is expanding independently of extrinsic influences or by responding inadequately to them. Primary erythrocytoses include primary familial and congenital polycythemia (PFCP) due to mutations of the erythropoietin (Epo) receptor gene and the myeloproliferative disorder polycythemia vera. Secondary erythrocytoses are driven by hormonal factors (predominantly by Epo) extrinsic to the erythroid compartment. The increased Epo secretion may represent either a physiologic response to tissue hypoxia, an abnormal autonomous Epo production, or a dysregulation of the oxygen-dependent Epo synthesis. Congenital secondary erythrocytoses are caused, e.g., by hemoglobin variants with increased oxygen affinity, by 2,3-bisphosphoglycerate deficiency, or by mutations in the von Hippel–Lindau gene associated with a disturbed oxygen-dependent regulation of Epo synthesis.
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Metadata
Title
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment
Author
H. Cario
Publication date
01-03-2005
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 3/2005
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-004-0985-1

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