Owen Jennifer L, Harvey John W
Department of Physiological Sciences, University of Florida College of Veterinary Medicine, Gainesville, FL 32610, USA.
Vet Clin North Am Small Anim Pract. 2012 Jan;42(1):73-84. doi: 10.1016/j.cvsm.2011.09.006. Epub 2011 Nov 23.
Erythrocyte enzyme deficiencies do not usually shorten life expectancy except for PK deficiency in dogs and the potential for PFK-deficient dogs to die during hemolytic crises. In addition, erythrocyte enzyme deficiencies are uncommon or rare, so they are generally not seriously considered in the differential diagnosis of anemia until common causes of anemia have been excluded. However, unique clinical and/or laboratory findings like sporadic hemoglobinuria in English Springer spaniels (PFK deficiency) may quickly point to the possibility of an inherited erythrocyte enzyme defect. The ability to diagnose deficient or carrier animals allows for the possibility of eliminating these undesirable traits in future breeding. Continued research is needed to document additional enzyme deficiencies that likely occur and to develop additional DNA-based assays that are especially important in the recognition of heterozygous or carrier animals that have no clinical signs.
除了犬类中的丙酮酸激酶(PK)缺乏症以及磷酸果糖激酶(PFK)缺乏的犬类在溶血危象期间有死亡风险外,红细胞酶缺乏症通常不会缩短预期寿命。此外,红细胞酶缺乏症并不常见或较为罕见,因此在排除贫血的常见病因之前,一般不会在贫血的鉴别诊断中予以认真考虑。然而,像英国激飞猎犬出现的散发性血红蛋白尿(PFK缺乏)这样独特的临床和/或实验室检查结果,可能会迅速提示存在遗传性红细胞酶缺陷的可能性。诊断出缺乏酶或携带该缺陷基因的动物,有助于在未来繁殖中消除这些不良性状。还需要持续开展研究,以记录可能存在的其他酶缺乏症,并开发更多基于DNA的检测方法,这对于识别没有临床症状的杂合子或携带该缺陷基因的动物尤为重要。