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: Tojashicage Dumuro
Country: Ukraine
Language: English (Spanish)
Genre: Science
Published (Last): 22 December 2005
Pages: 209
PDF File Size: 12.62 Mb
ePub File Size: 7.8 Mb
ISBN: 118-9-28154-827-8
Downloads: 90301
Price: Free* [*Free Regsitration Required]
Uploader: Moogujind

Enzyme deficiencies may involve: The patient of this report was too debilitated and could not be effectively transfused because of a broad blood incompatibility to prepare the dog safely for this the surgical intervention.

The clinical chemistry profile showed mild hyperbilirubinemia 0. 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. Hereditary Erythrocyte Enzyme Abnormalities. The dog was treated presumptively with imidocarb dipropionate, doxycycline and iron supplements without clinical or hematological improvement and thus was referred.

Breed-specific hereditary diseases and genetic screening. The high erythrocytic content of 2,3-DPG facilitates the easy release of oxygen from hemoglobin by the lower hemoglobin-oxygen affinity, which in turn improves oxygen delivery and enhances tissue oxygenation, thereby ameliorating the clinical signs of the severe anemia.

Vet Clin Pathol 20, 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. J Small Anim Pract 49, Vet Clin Pathol 20, Regenerative anemias caused by blood loss or hemolysis.


PK is a key regulatory enzyme of glycolysis and two major metabolic abnormalities result from PK deficiency: Hereditary PK deficiency was suspected based upon the breed, early onset, chronic severely regenerative anemia and osteosclerosis. In veterinary clinics, it is more important to recognize PK deficiency in order to avoid excessive diagnostic procedures for the affected dogs hemolitiica unnecessary or even harmful treatments with medications such as immunosuppressive agents and iron supplementation.

At the first examination, a leukocytosis may be normal for the deficiencis age or could have been associated with another concurrent illness, which may have been corrected by supportive treatment. 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. Unless a hemolytic crisis develops, transfusions are rarely needed in PK-deficient dogs and cats, as they adapt quite well and can live in good health as house pets, sometimes deficienciia years without treatment.


J Pediatr Unstable extramedullary hematopoiesis that deficiencia de piruvato cinasa pose a risk of imminent neurologic compromise o. Pyruvate kinase is one of two key-regulatory enzymes in the anaerobic glycolytic pathway, and its deficiency causes defiiencia destruction of the ATP-depleted red cells.

The dog reported here was found to have this same mutation thereby confirming PK deficiency. Breed-specific hereditary diseases and genetic screening.

Piruvato quinase

Mol Med 16, Biochemical and molecular genetic tests have been developed for many diseases; however, their application as diagnostic tools for companion animals is still limited. Deficiencia de piruvato cinasa symptomatic cholelithiasis or cholecystitis.

Its plasma was incompatible against 10 donors in hemolihica major crossmatch autocontrols were negativesincluding a “universal donor” only DEA 4 veficiencia and two relatives of the patient figure 2. Feline acute intermittent porphyria: Subjects with hepatitis C may be rescreened after receiving appropriate hepatitis C treatment j. The documents contained in this web site are presented for information purposes only.


Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat.

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

Regenerative anemias caused by blood loss or hemolysis. Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia.

J Small Anim Pract 31, 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 pro in WHWT with a polymerase chain reaction.

Pyruvate kinase deficiency is the most common erythroenzymopathy in humans, dogs and cats. 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.

The treatment is mostly supportive and any other illnesses, stress or excessive exercise should be avoided. 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.

Transfusions may be necessary, but testing for blood compatibility is important to ensure the safety and efficacy of transfusions. Fortunately, the dog did not develop a serious reaction, but the PCV did not rise, thus being of questionable value.