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].
|Country:||Central African Republic|
|Published (Last):||26 September 2008|
|PDF File Size:||20.63 Mb|
|ePub File Size:||13.47 Mb|
|Price:||Free* [*Free Regsitration Required]|
Haber recibido tratamiento previo con un activador de PK 7. In previous clinical visits babesiosis was suspect due to severe anemia and also giardiasis because the puppy had some episodes of loose and greennish faeces. If either pyruvate kinase PK or phosphofructokinase PFKthe two key regulatory enzymes in anaerobic glycolysis, is finasa, erythrocytic ATP production will be impaired and red bemolitica cells RBCs will have a shortened survival.
Many animals with hemolytic anemia are initially misdiagnosed and treated for infectious diseases e. Permission to perform a necropsy was not received.
Anemia hemolítica por deficit de piruvato cinasa by Doris Cruz on Prezi
Historically the puppy was weak, has episodes of syncope and constantly showed pale gums on routine clinical examination.
Subjects with hepatitis C may be rescreened after receiving appropriate hepatitis C treatment j.
J Am Vet Med Assoc This Davies book on the cosmos one Positivo en prueba de Ac contra el VIH-1 o 2 k.
As a result of splenectomy, reticulocyte counts often increase and transfusion needs are reduced. Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. Hereditary Erythrocyte Enzyme Abnormalities. Mol Med 16, In order to prevent the further spread of this and other hereditary diseases, it is essential to recognize not only the affected animals, but also the carriers that can transmit the mutant allele to their offspring.
In this case, the patient could be negative for Dal or another antigen. Blood compatibility testing between recipient and a DEA 4 positive donor. In this report, dfeiciencia dog did not show any hepatosplenomegaly, hepatic disease or iron accumulation, but a hepatic biopsy and iron assessment were not carried out.
Consecuencias de la deficiencia PK en eritrocito by Sofía Herrera on Prezi
Are currently enrolled in another therapeutic clinical trial involving ongoing therapy with any investigational or marketed product or placebo.
The illness may also become evident during a crisis triggered by a concurrent illness, such as an infection or toxicity, or stressful situation including strenuous exercise. While dogs do not generally have any clinically relevant naturally occurring alloantibodies, they can develop antibodies against blood groups and a common red cell antigen following transfusion, as seen in this case.
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. In humans, splenectomy can reduce the degree of hemolysis in some patients, but PK-deficient Basenji dogs did not improve clinically after surgery.
Importantly, due to the fact that the enzymatic activity is red cell age-dependent, a deficiency liruvato PK may be masked by reticulocytosis. Consultations of Feline Med Surg. At the first examination, a leukocytosis may be normal for anwmia young age or could have been associated with another concurrent illness, which may have been corrected by supportive treatment. PK deficiency is a hereditary disorder which has been studied by hematologists and geneticists for decades, in an attempt to better understand its disease process and prevalence, and in order to reach more reliable diagnosis and develop pof therapeutics for affected patients.
Inherited erythrocytic pyruvate kinase PK deficiency is an autosomal recessive hemolytic disorder described in dogs and cats. In previous clinical visits babesiosis was suspect due to severe anemia and also giardiasis because the puppy had some episodes of loose and greennish faeces.
The dog was euthanized at 20 months of age due to the deterioration of its clinical condition including anemia and blood incompatibility.
The degree of osteosclerosis was radiographically mild, but the marrow was not histopathologically examined. Indeed, many PK-deficient dogs are not diagnosed until one to several years of age, as the animals can often adapt well to the heemolitica chronic anemia. 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 xeficiencia chain reaction.
In case of persistent normocytic hemolytic anemia in which hemoglobin abnormalities and antiglobulin reactions have been excluded, spherocytes are absent, and osmotic fragility is normal, the diagnosis of hereditary nonspherocytic hemolytic anemia should be considered.
Inherited metabolic disease in companion animals: Since this is the first case report of PK-deficiency from Brazil, it will be important to investigate the presence of asymptomatic carriers to avoid the spreading of this disorder Giger Because PK andmia causes a distal metabolic block in the anaerobic glycolytic pathway, the proximal glycolytic metabolites, including 2,3-diphosphoglycerate 2,3-DPGtend to accumulate, hemolihica distal metabolites like ATP cinsaa depleted in erythrocytes.
As noted in this case, transient improvements and clinical stabilization can be observed. To date, more than mutations in PKLR have been reported. While dogs do not generally have any clinically relevant naturally occurring alloantibodies, they can develop hemolitifa against blood groups and a common red cell antigen following transfusion, as seen in this case.
Cats exhibit intermittent lethargy, pale mucous membranes cunasa have intermittently mild to moderately severe anemia which may be complicated by bilirubin bile calculi GigerHarvey et alKohn and FumiVan Geffen et alGiger The authors thank the owners of the patient reported in this study case for their patience and care.
However, the increased iron uptake due to hemolytic anemia caused by PK-deficiency is common to all species and can lead to hemosiderosis and eventually hemochromatosis, particularly after patients are transfused large iron source Schaer et al Briefly, DNA was extracted from nucleated cells from a small aliquot of the EDTA blood and specific primers were used to amplify the piruvsto surrounding the known mutation in WHWT with a polymerase chain reaction.
In fact, considering the high mortality rate of dogs with immune-meditated hemolytic anemia, PK deficiency may offer a better prognosis. Hum Mol Genet 19, Clinicians often do not consider hereditary RBC defects, as they are believed to occur deficincia. Thus, splenectomy may only be considered as a last resort in dogs that are persistently severely anemic or have frequently severe crises and are transfusion dependent.