Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic . La deficiencia de piruvato cinasa es una causa rara de anemia hemolítica. Durante el embarazo, se ha tratado casos graves de esta deficiencia con. Anemia Hemolítica no esferocítica (AHCNE) por deficiencia de piruvato quinasa: informe del segundo caso en Costa Rica. Rev. costarric. cienc. méd [online].

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Anemia hemolítica por deficit de piruvato cinasa by Doris Cruz on Prezi

For yet unexplained reasons, anejia PK-deficient dogs develop a progressive myelofibrosis and then osteosclerosis, as seen in this case, though PK-deficient cats and humans do not experience osteoclerosis. While in the past PK-deficiency was diagnosed by erythrocytic enzymatic activity test, assessment of oxygenhemoglobin dissociation curve, and level of intermediates of the glycolytic pathway, such as 2,3-DPG, a definitive naemia in this case was established simply with the PCR mutation-specific test.

Hereditary PK deficiency was suspected based upon the breed, early onset, chronic severely regenerative anemia and osteosclerosis.

It is important that hereditary RBC defects, such as PK deficiency, are being considered pirruvato cases of hemolytic anemias. These studies have and will bring benefits for humans and for animals. Blood transfusions from compatible donors are sometimes needed when the anemia becomes most severe and the PK-deficient animal shows major clinical signs. Am J Vet Res 60, The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be deficiencix.

Transfusions may be necessary, but testing for blood compatibility is important to ensure the safety and efficacy of transfusions. At the first examination, deficiecnia leukocytosis may be normal for the young age or could have been associated with another concurrent illness, which may have been corrected by supportive treatment.


Have a diagnosis of any other congenital or acquired blood disorder or any other hemolytic process, except mild allo-immunization, as a consequence of transfusion therapy i.

It should be noted that the fall in PCV observed in the aanemia month of life was pirjvato with a diminished bone marrow response, as shown by both the lower absolute reticulocyte count and reticulocyte production index. Some clinical improvement was observed within a day, but the PCV did not rise. At the first examination, a leukocytosis may be normal for the young age or could have been associated with another concurrent illness, which may have been corrected by supportive treatment.

Consecuencias de la deficiencia PK en eritrocito by Sofía Herrera on Prezi

Comp Haem Intern 1, Create a free PDF file from any document. Diagnostic methods Diagnosis may be considered on the basis of the clinical features and laboratory findings: Fortunately, the dog did not develop a serious reaction, but the PCV did not rise, thus being of questionable value.

Unstable extramedullary hematopoiesis that deficiencia de piruvato cinasa pose a risk of imminent neurologic compromise o. The authors thank the owners of the patient reported in this study case for their patience and care. The increased 2,3-DPG levels ameliorate the anemia by lowering the oxygen-affinity of hemoglobin.

Pyruvate kinase is one of two key-regulatory enzymes in the anaerobic glycolytic pathway, and its deficiency causes premature destruction of the ATP-depleted red cells. J Am Anim Hosp Assoc 28, Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog.

Clinicians often do not consider hereditary RBC defects, as they are believed to occur rarely. In veterinary clinics, it is more important to recognize PK deficiency in order to avoid excessive diagnostic procedures for the affected dogs and unnecessary or even harmful treatments with medications such as immunosuppressive agents and iron supplementation. Textbook of Veterinary Internal Medicine: J Small Anim Defiiencia 31, Methaemoglobin reductase deficiency in dogs. Low dose glucocorticosteroid therapy may reduce RBC destruction and thereby ameliorate anemia.


However, the presentation of chronic, severe, highly regenerative, and Coomb’s negative hemolytic anemia in a young dog which is unresponsive to treatment should raise suspicion.

Subjects with symptomatic cholelithiasis or cholecystitis may be rescreened once the disorder has been treated and clinical symptoms have resolved. Affected dogs may be first discovered only because of very pale mucous membranes on routine examination. Due to the severity of clinical signs and puruvato, the dog was still transfused with fresh whole blood from the “universal donor” DEA 4 positive only.

Piruvato quinase

Hematology PPT- anemia, thalasemia. Biochemical and molecular genetic tests have been developed for many diseases; however, their application as diagnostic tools for companion animals is still limited. Genetic test for pyruvate kinase deficienciq of Basenjis. In contrast to PK-deficient dogs in which the anemia is typically first recognized in young animals, PK deficient cats have intermittent anemia and are often not diagnosed until they are of advanced age.

Thus, alloantibodies against DEA 1. In this case, the patient could be negative for Dal or another antigen.

Health care resources for this disease Expert centres Diagnostic tests 40 Patient organisations 39 Orphan drug s 1.

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