ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS
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Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.
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ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS
- 1. A PRESENTATION ON ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS BY SCT. MORDECAI OWAJIONIRO GODSTIME OCTOBER, 2016.
- 2. OUTLINE INTRODUCTION EPIDEMIOLOGY AETIOLOGY SIGNS AND SYMPTOMS HAEMATOLOGICAL IMPLICATIONS COMPLICATIONS OF EPKD DIAGNOSES OF EPKD CURRENT MANAGEMENT OPTIONS FOR EPKD EMERGING THERAPIES CONCLUSION RECOMMENDATION
- 3. INTRODUCTION Pyruvate Kinase(PK): last enzyme in glycolytic pathway, catalyze conversion of phosphoenolpyruvate(PEP) to pyruvate and yield adenosine triphosphate (ATP). Isoforms of PK:M1, M2, L and R. Erythrocytic pyruvate kinase deficiency(EPKD) EPKD types: acquired and inherited
- 4. EPIDEMIOLOGY Most frequent enzyme abnormality of the glycolytic pathway. Most common cause of hereditary non- spherocytic haemolytic anaemia. Estimated prevalence:1 in 20,000. Global distribution. (Beutler et al., 2000).
- 5. AETIOLOGY EPKD is caused by a mutation in PK- LR gene located on chromosome 1q21. More than 200 mutations in the PK-LR gene have been reported. EPKD is inherited as an autosomal recessive disorder. (Beutler et al., 2000).
- 6. SIGNS AND SYMPTOMS Fatigue Lethargy Jaundice Pallor (Paleness of skin) Dyspnea (Shortness of breath) Tachycardia (Rapid heart rate ). (Grace et al., 2015).
- 7. HAEMATOLOGICAL IMPLICATIONS Reticulocytosis. Hereditary non-spherocytic haemolytic anemia. Echinocytosis(contracted spiculated cells)
- 9. COMPLICATIONS OF EPKD Iron overload Hyperbilirubinaemia Gallstone Splenomegaly (Zanella et al., 2005; Marshall et al., 2003; Doan et al.,2002; Chou et al.,2001).
- 10. DIAGNOSES OF EPKD Direct enzyme assay Serum bilirubin level PKLR gene molecular analysis Full blood count. Reticulocyte count. Peripheral blood film examination (Zanella et al., 2007).
- 11. CURRENT MANAGEMENT OPTIONS FOR EPKD Treament is mainly supportive-Newborns with hyperbilirubinaemia receive phototherapy and/or exchange transfusion-Anaemia is treated with blood transfusion Splenectomy Daily intake of folic acid to support high red blood cell production: important for women with EPKD who are planning
- 12. EMERGING THERAPIES Cure through haematopoietic stem cell transplant. Gene therapy A pharmacological activator of PK, AG- 348, is currently in early phase clinical trials.
- 13. CONCLUSION ATP is the sole energy currency of red blood cells and as such erythrocytic pyruvate kinase plays a major role as it catalyses the conversion of phosphoenolpyruvate to pyruvate with the production of ATP. A defect in the synthesis of pyruvate kinase will lead to deformability and dysfunction of red cells. This will result to hereditary non-spherocytic haemolytic anaemia with some haemalotogical signature.
- 14. RECOMMENDATION PKD should always be considered in newborns with severe hyperbilirubinaemia of unknown aetiology.
- 15. THANK YOU!