Primary benign erythrocytosis with high erythropoietin levels and an early erythropoietin-sensitive population in the peripheral blood.

摘要: Primary erythrocytosis diagnosed in a 10-month-old female and followed for 12 years is described. The was associated with an abnormally elevated set point of erythropoietin production which the sensitivity fluctuated independently, but corresponded to alterations oxygen-carrying capacity blood, when hematocrit lowered by phlebotomies. Extensive work secondary erythrocytoses failed demonstrate recognizable cause this abnormal production. Erythroid cell cultures from peripheral blood mononuclear cells showed existence at least two populations: one consistent dramatic expansion erythron keeping enhanced endogenous erythropoietin, other features typical colonies derived burst-forming units-erythroid (BFU-Es), seen normal on days 14 culture. expanded population characterized appearance single 4 6 enormous response increasing amounts their number, size, maturation. combination clinical vitro data as well absence any abnormality erythropoiesis parents sibling suggest that child represents new form benign course.