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G6PD and heme pigment-induced ATN AM Report

What is it?. An inherited condition in which patients are excessively susceptible to the development of hemolytic anemia.

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G6PD and heme pigment-induced ATN AM Report

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    1. G6PD and heme pigment-induced ATN AM Report Emily Chang September 5, 2008

    2. What is it?

    3. WHO working groups

    4. Who gets it?

    5. How does it present? Usually asymptomatic but can also vary from episodic anemia to chronic hemolysis. The presentation depends on the biochemistry of the variant. There are over 500 different mutations identified thus far. acute hemolytic anemia congenital nonsperocytic hemolytic anemia neonatal hyperbilirubinemia favism

    6. Acute hemolytic anemia Asymptomatic at steady state without anemia or abnormal morphology. Sudden destruction of deficient erythrocytes 2-4 days after offending "event" leads to jaundice, pallor, dark urine, +/- back pain. Abrupt drop in H/H to <4 g/dL and PBS with microspherocytes, cell fragments or bite cells. Sequestration of damaged red cells in liver and spleen. Increase in reticulocytes within 5 days, maximal at 7-10 days with reversal of anemia even without removal of offending drug. In G6PD Mediterranean, hemolysis more severe and can continue even after drug d/c'd.

    7. Congenital nonspherocytic hemolytic anemia Class I variants in whom lifelong hemolysis occurs in absence of preceding event. Functional defect is so severe that RBCs cannot withstand normal stresses in the circulation. Anemia and jaundice usually noted in newborn period. Mild to moderate anemia (8-10 g/dL) with rare pallor, SM and intermittent icterus. Erythropoietic capacity compensates. In severely deficient, neutrophil dysfunction due to G6PD deficiency leads to impaired neutrophil activity and recurrent infections with catalase-positive organisms.

    8. Favism Results from ingestion of fava beans. Peak incidence April/May coincident with harvest time. Usually male children, ages 1-5. 5-24 hours after ingestion - HA, nausea, back pain, chills, fever, jaundice and hemoglobinuria. Acute fall in hemoglobin requiring transfusion. Most commonly seen with G6PD Mediterranean variant.

    9. How does it work?

    10. cont'd Normal red cells generate NADPH in response to oxidant stress; this capacity is impaired in patients with G6PD deficiency. Failure to withstand oxidant stress damage to sulphydryl groups in hemoglobin and the red cell membrane causes hemolysis. Cells in other tissues and organs have alternate pathways for the generation of NADPH and can withstand such oxidant stress. But not so in the simple RBC. The activity of all red cell enzymes, including G6PD, is highest in young red cells (reticulocytes), and progressively declines as the cell ages.

    11. Biochemical pathway the Hexose monophosphate shunt

    12. Precipitants

    13. Laboratory diagnosis

    14. Peripheral Blood Smear

    15. How do you treat it?

    16. A word about Heme-pigment induced ATN

    17. What doesnt fit . . .

    18. References

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