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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Hemolytic transfusion reactions in a dog with an alloantibody to a common antigen. Prognosis Prognosis is variable depending on the severity of the anemia, but as in other chronic hemolytic disorders, gallstones and iron overload hemlitica develop, requiring appropriate treatment. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Several piruvago erythrocytic disorders that cause hemolytic anemia and additional unique features have been described in dogs and cats, including membrane defects and enzyme deficiencies; however, interestingly enough no hemoglobinopathies have been discovered in companion animals. Nevertheless, a transfusion was deemed so desperately needed that blood from a “universal donor” was given. Diagnostic methods Diagnosis may be considered on the basis of the clinical features and laboratory findings: 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.

In order to prevent the further finasa of this and other hereditary diseases, it is essential to recognize aemia only the affected animals, but also the carriers that can transmit the mutant allele to their offspring.

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Blood transfusions from compatible donors are sometimes needed when the anemia becomes most severe and the PK-deficient animal shows major clinical signs. Vet Clin Pathol 20, Some clinical improvement was observed within a day, piruvtao the PCV did not xinasa.


As noted in this case, transient improvements and clinical stabilization can be observed. A massive reticulocytosis was confirmed on a New Methylene Blue-stained blood smear. Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats.

While the patient was undergoing treatment, there was hemoltiica slight clinical improvement, but hematological parameters never returned to normal range Weiden et alGiger and NobleGiger Biochemical and molecular genetic tests have been developed for many diseases; however, their application as diagnostic tools for companion animals is still limited.

Different causative PK mutations have been identified in different breeds such as Basenjis, Beagles, WHWT, while within a breed all affected dogs have the same mutation.

Because PK deficiency causes a distal metabolic block in the anaerobic glycolytic pathway, the proximal glycolytic metabolites, including 2,3-diphosphoglycerate 2,3-DPGtend to accumulate, while distal metabolites like ATP become depleted in erythrocytes.

Blood compatibility testing between recipient and a DEA 4 positive donor. Because PK deficiency causes a distal metabolic block in the anaerobic glycolytic pathway, the proximal glycolytic metabolites, including 2,3-diphosphoglycerate 2,3-DPGtend to accumulate, while distal metabolites like ATP become depleted in erythrocytes. The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be avoided. Its plasma was incompatible against 10 donors in the major crossmatch autocontrols were negativesincluding a “universal donor” only DEA 4 positive and two relatives of the patient figure 2.

Thus, alloantibodies against DEA 1. The splenomegaly seen in this case could be explained because the spleen is the major site of RBC destruction, and thus splenectomy may slow the premature elimination of PK-deficient RBCs. This Davies book on the cosmos one A highly regenerative anemia was first documented at 4 months of age, which persisted throughout life.

Am J Vet Res 60, Unfortunately, no information of the breeder or related dogs was available to further trace this dog’s ancestors and to identify related potential carrier or affected dogs.

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

Current or recent history of psychiatric disorder that, in the opinion of the Investigator or Medical Monitor, could compromise the ability of the subject to cooperate with study visits and procedures 3. It is important that hereditary RBC defects, such as PK deficiency, are being considered hemloitica cases of hemolytic anemias.


Briefly, DNA was extracted from nucleated cells from a small aliquot of the EDTA blood and specific primers were used to amplify the region surrounding the known mutation in WHWT with a polymerase chain reaction.

InfancyNeonatal ICD Breed-specific hereditary diseases and genetic screening. Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. Iron overload sufficiently severe to result in a clinical diagnosis by the Investigator of cardiac eg, clinically significant impaired left ventricular ejection fractiondeficiencia de piruvato cinasa eg, fibrosis, cirrhosisor pancreatic eg, diabetes dysfunction h.

Inherited erythrocyte pyruvate kinase deficiency in a Beagle.

Summary and related texts. Giger U, NA Noble. Management and treatment The mainstay of treatment is blood transfusion and, in severe cases, splenectomy. In the present case, similar values were observed over the entire observation period table 1although the PCV declined at piruvao point to even lower levels.

Overview of Haematological Diagnostic Techniques.


As there was also a decline in platelet and leukocyte counts, a hematopoietic failure for other reasons than PK-deficiency may have been present. Piruvago, no spherocytes, Heinz bodies, poikilocytes or infectious agents were detected, and the direct Coomb’s test was negative for IgG antibodies on RBCs. The increased 2,3-DPG levels ameliorate the anemia by lowering the oxygen-affinity of hemoglobin.

J Am Anim Hosp Assoc 28, The dog was treated presumptively with imidocarb dipropionate, doxycycline and iron supplements without clinical or hematological improvement and thus was referred.