Pyruvate Kinase Deficiency
Pyruvate kinase deficiency
En bref
Pyruvate kinase deficiency is an uncommon inherited enzyme disorder in dogs and cats that causes red blood cells to break down prematurely. This leads to chronic anemia, bone marrow scarring, and potential liver failure. Learn how to recognize the signs, how vets diagnose it using genetic testing, and what this diagnosis means for your pet's future.
TL;DR. Hémolyse précoce, anémie chronique, fibrose médullaire.
Chiens et chats.
Qu'est-ce que c'est ?
Autosomal recessive enzyme defect: red cells cannot make enough ATP via glycolysis, so they hemolyze early. Compensatory regeneration, then myelofibrosis/osteosclerosis and iron-related liver injury.
"Although heritable HA is relatively uncommon, heritable defects may be common in a given breed... When present, hemolysis is more likely to be detected in young adults than in puppies or kittens."
Causes et facteurs de risque
Inherited only. Carriers healthy. Affected pets need two mutant copies. Signs often clear in young adults. Breed-associated in multiple dog and cat breeds.
Signes à surveiller
- Anemia (cardinal)
- Lethargy, pallor, exercise intolerance, reduced activity (common)
- Myelofibrosis/osteosclerosis (common progressive)
- Icterus; hemosiderosis-related hepatic failure (occasional)
Gencives pâles: anémie.
Comment les vétérinaires diagnostiquent
CBC (regenerative then nonregenerative anemia); enzyme assays at specialty labs; gold-standard DNA testing for affected and carriers.
Test génétique: étalon-or.
Options de traitement
No cure. Supportive: transfusions in crisis; careful iron management; splenectomy case-by-case; bone marrow transplant rarely feasible.
Pronostic
Dogs: guarded to poor; many decline by 3-5 years. Cats: more variable; some live years with chronic anemia under monitoring.
Prévention
Genetic screening before breeding; never mate two carriers.
Quand appeler le vétérinaire
Emergency for collapse, labored breathing, icterus, dark urine, or refusal to eat/drink.
Sources
- Small Animal Critical Care Medicine, 2nd Edition, p. 653
- Internal Medicine, 5th Edition, p. 1235
My highlights & notes
Signes et symptômes
Races à risque plus élevé
Comment c’est diagnostiqué
- Genetic testsRéférence
- Physical and functional tests of the RBC
Questions fréquentes
What is Pyruvate Kinase Deficiency?
Pyruvate kinase deficiency is an uncommon inherited enzyme disorder in dogs and cats that causes red blood cells to break down prematurely. This leads to chronic anemia, bone marrow scarring, and potential liver failure. Learn how to recognize the signs, how vets diagnose it using genetic testing, and what this diagnosis means for your pet's future.
What are the symptoms of Pyruvate Kinase Deficiency?
Anaemia (pale gums)、Decreased overall activity、Lethargy、Myelofibrosis、Osteosclerosis、Tiring easily during activity、Pallor、Hemosiderosis-associated hepatic failure
How is Pyruvate Kinase Deficiency diagnosed?
Genetic tests、Physical and functional tests of the RBC
Sources
- Small Animal Critical Care Medicine, 2nd Edition (VetBooks.ir) · p. 653
- Small Animal Critical Care Medicine, 2nd Edition (VetBooks.ir) · p. 653
- Internal Medicine 5th · p. 1235
Cet article est informatif et ne remplace pas un avis vétérinaire. Si votre animal est malade, consultez un vétérinaire.
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