Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog

Inherited erythrocytic pyruvate kinase (PK) deficiency is an autosomal recessive hemolytic disorder described in 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. Thi...

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Autores principales:	Hlavac,NRC, Lacerda,LA, Conrado,FO, Hünning,PS, Seibert,M, González,FHD, Giger,U
Lenguaje:	English
Publicado:	Facultad de Ciencias Veterinarias, Universidad Austral de Chile 2012
Materias:	pyruvate kinase erythroenzymopathies genetic disease regenerative anemia
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0301-732X2012000200015
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spelling	oai:scielo:S0301-732X20120002000152013-11-06Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dogHlavac,NRCLacerda,LAConrado,FOHünning,PSSeibert,MGonzález,FHDGiger,U pyruvate kinase erythroenzymopathies genetic disease regenerative anemia Inherited erythrocytic pyruvate kinase (PK) deficiency is an autosomal recessive hemolytic disorder described in 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. This case study reports the clinical and laboratory findings in a West Highland White Terrier (WHWT) dog with a life-long history of weakness and exercise intolerance from Brazil. The dog was found to have persistently profound pallor, a highly regenerative hemolytic anemia and osteosclerosis. PK deficiency was confirmed by a breed-specific DNA test for the previously described 6 bp insertion at 3' end of exon 10 in red blood cell (RBC) R- PK gene sequence. The dog was euthanized at 20 months of age due to the deterioration of its clinical condition including anemia and blood incompatibility. Other PK-deficient WHWTs have lived as long as 9 years. Hereditary red cell defects are important differential diagnoses for chronic hemolytic anemias in younger animals after excluding immune-mediated and infectious causes. Furthermore, purebred dogs for which DNA tests for hereditary diseases are available should be screened prior to breeding in order to limit the spread of the mutant allele and to avoid future production of PK-deficient animals.info:eu-repo/semantics/openAccessFacultad de Ciencias Veterinarias, Universidad Austral de ChileArchivos de medicina veterinaria v.44 n.2 20122012-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0301-732X2012000200015en10.4067/S0301-732X2012000200015
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	pyruvate kinase erythroenzymopathies genetic disease regenerative anemia
spellingShingle	pyruvate kinase erythroenzymopathies genetic disease regenerative anemia Hlavac,NRC Lacerda,LA Conrado,FO Hünning,PS Seibert,M González,FHD Giger,U Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
description	Inherited erythrocytic pyruvate kinase (PK) deficiency is an autosomal recessive hemolytic disorder described in 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. This case study reports the clinical and laboratory findings in a West Highland White Terrier (WHWT) dog with a life-long history of weakness and exercise intolerance from Brazil. The dog was found to have persistently profound pallor, a highly regenerative hemolytic anemia and osteosclerosis. PK deficiency was confirmed by a breed-specific DNA test for the previously described 6 bp insertion at 3' end of exon 10 in red blood cell (RBC) R- PK gene sequence. The dog was euthanized at 20 months of age due to the deterioration of its clinical condition including anemia and blood incompatibility. Other PK-deficient WHWTs have lived as long as 9 years. Hereditary red cell defects are important differential diagnoses for chronic hemolytic anemias in younger animals after excluding immune-mediated and infectious causes. Furthermore, purebred dogs for which DNA tests for hereditary diseases are available should be screened prior to breeding in order to limit the spread of the mutant allele and to avoid future production of PK-deficient animals.
author	Hlavac,NRC Lacerda,LA Conrado,FO Hünning,PS Seibert,M González,FHD Giger,U
author_facet	Hlavac,NRC Lacerda,LA Conrado,FO Hünning,PS Seibert,M González,FHD Giger,U
author_sort	Hlavac,NRC
title	Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
title_short	Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
title_full	Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
title_fullStr	Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
title_full_unstemmed	Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog
title_sort	hemolytic anemia caused by hereditary pyruvate kinase deficiency in a west highland white terrier dog
publisher	Facultad de Ciencias Veterinarias, Universidad Austral de Chile
publishDate	2012
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0301-732X2012000200015
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Hemolytic anemia caused by hereditary pyruvate kinase deficiency in a West Highland White Terrier dog

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