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].

Author: Mugul Akinogore
Country: Indonesia
Language: English (Spanish)
Genre: Software
Published (Last): 25 November 2008
Pages: 134
PDF File Size: 18.55 Mb
ePub File Size: 19.75 Mb
ISBN: 339-7-42191-865-7
Downloads: 94203
Price: Free* [*Free Regsitration Required]
Uploader: Tygokree

The Dog and Its Genome.

There was a problem providing the content you requested

Health care resources for this disease Expert centres Diagnostic tests 40 Patient organisations 39 Orphan drug defciencia 1. Blood compatibility testing between recipient and a DEA 4 positive donor. Feline congenital erythropoietic porphyria: Management and treatment The mainstay of treatment is blood transfusion and, in severe cases, splenectomy.

Blood transfusions from compatible donors are sometimes needed when the anemia becomes most severe and the PK-deficient animal shows major clinical signs.


Moreover, in certain breeds, PK deficiency, just like other hereditary disorders and genetic predispositions to disease, may occur commonly due to the breeding of carrier animals HarveySewell et alGiger The dog was found to have persistently profound pallor, a highly regenerative hemolytic anemia and osteosclerosis.

Hereditary Erythrocyte Enzyme Abnormalities. Molecular basis of erythrocyte pyruvate kinase R-PK poor in cats.

J Am Vet Med Assoc The dog was euthanized at 20 months of age due to the deterioration of its clinical condition including anemia and blood incompatibility. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Regenerative anemias caused by blood loss or hemolysis. 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.

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. Genetic test for pyruvate kinase deficiency of Basenjis. The authors thank the owners of the patient reported in this study case for their patience and care.

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

Current defiicencia 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. For yet unexplained reasons, all 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.

Immune-Mediated Anemias in the Dog.

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 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. 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.

Orphanet: Anemia hemolítica por deficiencia de piruvato quinasa de los glóbulos rojos

Some clinical improvement was observed within a day, but deficienica PCV did not rise. No clinically practical specific treatment has yet been established for PK-deficient animals.

The degree of osteosclerosis was radiographically mild, but the marrow was not histopathologically examined. Hum Mol Genet 19, deficienciaa If either pyruvate kinase PK or phosphofructokinase PFKthe two key regulatory enzymes in anaerobic glycolysis, is deficient, erythrocytic ATP production will be impaired and red blood cells RBCs will have a shortened survival.

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 diagnosis in this case was established simply with the PCR mutation-specific test. Vet Clin Pathol 35, Also, the patient was treated for secondary diseases such as giardiasis and cibasa, without clinical response.

Only comments written in English can be processed. Textbook of Veterinary Internal Medicine: In order to assure a safe transfusion, compatibility testing hemolihica performed. For all the other canine breeds, detailed enzymatic activity tests that include the characterization of the isoenzymes or heat-lability are necessary. Deticiencia Clin Pathol 20, Comp Haem Intern 1, Radiographs from this WHWT terrier described here revealed only a mildly decreased bone radiopacity of the pelvic bones, probably due to piruvatl young age of the animal Chapman and GigerHarvey et alVan Geffen et al Check this box if you wish to receive a copy of your message.

Dog erythrocyte antigens 1. Indeed, dogs can become sensitized to other RBC antigens than one can test for and thus be incompatible to even the “universal donor” Callan et alBlais et alKessler et al Pathogenesis, laboratory diagnosis, and clinical implications of erytrocyte enzyme deficiencies in dogs, cats, and horses. Some clinical improvement was observed within a day, but the PCV did not rise. Low dose glucocorticosteroid therapy may reduce RBC destruction and thereby ameliorate anemia.

An explanation for this blood incompatibility could be the presence of some deficienciq RBC antigen that could not be identified by currently used methods of canine blood typing such as anemi Dal antigen. This case report describes the clinical course, laboratory alterations, molecular diagnosis, and management of the first PK-deficient Brazilian WHWT dog, suggesting the potential worldwide distribution of this disorder and that it possibly goes by under-diagnosed.

In the present case, similar values were observed over the entire observation period table 1although the PCV declined at some point to even lower levels.

Mol Med 16, Consultations of Feline Med Surg.