Erythrocytosis secondary to autonomous non-tumoural production of erythropoietin
Keywords:
erythrocytosis, erythropoietinAbstract
The case of a 24-year-old man, erythrocyanotic
since birth, with secondary erythrocyanosis, is
described. Investigation identified autonomous (non-tumoural) production of erythropoietin which was
unresponsive to isovolemic phlebotomies.
Downloads
References
Goldberg MA, Dunning SB, Bunn HF. Regulation of the EPO gene: evidence that the oxygen sensor is a heme protein. Science
;242:1412-1415.
Kranz SB. Erythropoietin. Blood 1991;77:419-434.
Adamson JW. Familial polycythemia. Semin Hematol 1975;12:383-396.
Stephens AD. Polycythemia and high affinity hemoglobin. Br J Hematol 1977;36:153-159.
Cartier P, Labie D, Leroux JX, Najman A, Demaugre F. Deficit familial en diphosphoglicerate-mutasee: étude hematologique et
biochimique Nouv Rev Fr Hematol 1972;12:269-287.
Erslev AJ. Secondary polycythemia (erythrocytosis). In: Beutler E, Lichtman MA, Coller BS, Kipps T. Williams Hematology, fifth
edition. New York, McGraw-Hill Inc, 1995:709-714.
Withcomb WH, Peschle C, More M, Nitschke R, Adasmson JW. Congenital erythrocytosis: a new form associated with an
erythropietin-dependent mechanism. Br J Haematol 1980;44:17-24.
Adamson JW, Stamatoyannopoulos G, Kontras S, Lascari A, Dieter J. Recessive familial erythrocytosis: aspects of marrow regulastion
in two families. Blood 1973;41:641-652.
Dainiak N, Hoffman R, Lebowitz AI, Solomon L, Maffei L, Ritchei K. Erythropoietin-dependent primary erythrocytosis. Blood
;53:1076-1084.
Yomemitsu H, Yamegushi K Shigeta H, Okuda K, Takaku F. Two cases of familial erythrocytosis with increased erythropoietin
activity in plasma and urine. Blood 1973;42:793-797.
Distelhorst CW, Wagner DS, Goldwasser E, Adamson JW. Autosomal dominant erythrocytosis due to autonomous
erythropietin production Blood 1981;58:1155-1158.
Prchal JT, Crist WM, Goldwasser E, Perrine G, Prchal JF. Autosomal dominant polycythemia. Blood 1985;66:1208-1214.
de la Chapelle A, Traskelin AL, Juvonene E. Truncated erythopoietin receptor causes dominantly inherited benigng human
erythrocytosis. Proc Natl Acad Sci USA 1993;90:4495-4499.
Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia. A frameshift mutation in the
erythropoietin receptors gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995;86:15-22.
Bakris GL, Sater ER, Hussey JL, Fisher JW, Gaber AO, Winsett R. Effects of theophylline on erythropoietin production in normal
subjects and in patients with erythrocytosis after renal transplantation. N Engl J Med 1990;323:89-89.
Gaston RS, Julian BA, Diethelm AG, Curtis JJ. Effects of enalapril on erythrocytosis after renal transplantation. Ann Int Med
;115:954-958.
OK E, Akcicek F, Toz H, Kursat S, Tobu M, Basci A, Mees EJD. Comparison of the effects of enalapril and theophylline on
polycythemia after renal transplantation. Transplantation 1995;59:1623-1626
Additional Files
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Medicina Interna
Open Access
