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Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK

机译:爱尔兰和英国的三个西部高地白梗中的红细胞丙酮酸激酶缺乏症

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摘要

Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia andhad been treated for presumed immune-mediated haemolytic anaemia (IMHA) before hereditary erythrocyte PK-deficiency was confirmed by breed-specific DNA mutation analysis. This hereditary erythroenzymopathy causes haemolytic anaemia and affects several canine breeds with varying degrees of severity. Although eventually causing osteosclerosis, haemosiderosis and death, PK-deficient dogs can adapt to their anaemia for many years.PK-deficiency should be considered in anaemic WHWTs worldwide particularly in dogs with haemolytic anaemia where evidence for an immune-mediated, infectious or toxic underlying cause is lacking.
机译:爱尔兰和英国的三个西汉高地白梗(WHWT)首次描述了红细胞丙酮酸激酶(PK)缺乏症。在通过品种特异性DNA突变分析确认遗传性红细胞PK缺陷之前,所有三只狗均被诊断出患有明显的再生性但持续性贫血,并已接受假定的免疫介导的溶血性贫血(IMHA)治疗。这种遗传性红细胞酶病会引起溶血性贫血,并影响不同程度的几种犬科动物。 PK缺乏症的狗虽然最终会导致骨硬化,铁血黄素沉着和死亡,但它们可以适应多年的贫血。全世界贫血的WHWT中都应考虑PK缺乏症,尤其是溶血性贫血的狗,这些证据表明存在免疫介导的,传染性或毒性潜在原因缺乏。

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