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本文引用的文献

1
Treatment and long-term follow-up of extrahepatic biliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency.一只患有丙酮酸激酶缺乏症的索马里猫的肝外胆管梗阻合并胆红素结石的治疗及长期随访
J Feline Med Surg. 2007 Oct;9(5):424-31. doi: 10.1016/j.jfms.2007.02.003. Epub 2007 May 1.
2
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses.犬、猫和马红细胞酶缺乏症的发病机制、实验室诊断及临床意义
Vet Clin Pathol. 2006 Jun;35(2):144-56. doi: 10.1111/j.1939-165x.2006.tb00108.x.
3
Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.法国的丙酮酸激酶缺乏症:一项为期3年的研究发现了27种新突变。
Br J Haematol. 2006 Jun;133(6):683-9. doi: 10.1111/j.1365-2141.2006.06076.x.
4
Primary immune-mediated hemolytic anemia in 19 cats: diagnosis, therapy, and outcome (1998-2004).19例猫原发性免疫介导性溶血性贫血:诊断、治疗及预后(1998 - 2004年)
J Vet Intern Med. 2006 Jan-Feb;20(1):159-66. doi: 10.1892/0891-6640(2006)20[159:pihaic]2.0.co;2.
5
Pyruvate kinase deficiency in a Somali cat in Australia.澳大利亚一只索马里猫患丙酮酸激酶缺乏症。
Aust Vet J. 2005 Aug;83(8):483-5. doi: 10.1111/j.1751-0813.2005.tb13298.x.
6
Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia.遗传性非球形细胞溶血性贫血所致铁过载导致的肝硬化
World J Gastroenterol. 2005 Feb 28;11(8):1241-4. doi: 10.3748/wjg.v11.i8.1241.
7
Whole blood transfusions in 91 cats: a clinical evaluation.91只猫的全血输血:临床评估
J Feline Med Surg. 2004 Jun;6(3):139-48. doi: 10.1016/j.jfms.2004.01.005.
8
Inherited erythrocyte pyruvate kinase deficiency in a beagle dog.一只比格犬的遗传性红细胞丙酮酸激酶缺乏症。
Vet Clin Pathol. 1991;20(3):83-86. doi: 10.1111/j.1939-165x.1991.tb00572.x.
9
Concomitant laparoscopic splenectomy and cholecystectomy as an effective and minimally invasive treatment of pyruvate kinase deficiency with gallstones.同期腹腔镜脾切除术和胆囊切除术作为丙酮酸激酶缺乏症合并胆结石的一种有效且微创的治疗方法。
Surg Endosc. 2002 Oct;16(10):1495. doi: 10.1007/s00464-002-4503-z. Epub 2002 Jul 1.
10
Anemia, splenomegaly, and increased osmotic fragility of erythrocytes in Abyssinian and Somali cats.阿比西尼亚猫和索马里猫的贫血、脾肿大及红细胞渗透脆性增加。
J Am Vet Med Assoc. 2000 Nov 15;217(10):1483-91. doi: 10.2460/javma.2000.217.1483.

阿比西尼亚猫和索马里猫丙酮酸激酶缺乏症的临床病程

Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats.

作者信息

Kohn Barbara, Fumi Christine

机构信息

Clinic for Small Animals, Faculty of Veterinary Medicine, Free University of Berlin, Berlin, Germany.

出版信息

J Feline Med Surg. 2008 Apr;10(2):145-53. doi: 10.1016/j.jfms.2007.09.006. Epub 2008 Feb 20.

DOI:10.1016/j.jfms.2007.09.006
PMID:18077199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10911213/
Abstract

The objective of this study was to examine clinical signs, laboratory parameters, and course of disease in Abyssinian and Somali cats with pyruvate kinase (PK) deficiency. The clinical course of 25 PK-deficient cats was followed over a time period of 0.8-11.3 years (median 4.3). Eleven cats (age 0.8-7.8 years, median 4.4) did not show signs according to the owners. In 14 cats (age 0.1-5 years, median 1.7) the owners noted lethargy (10), diarrhoea (seven), pale mucous membranes (six), inappetence (six), poor coat quality (six), weight loss (four), icterus (four), and pica (two). Sixteen cats had been used for breeding at least once before diagnosis. Laboratory abnormalities included anaemia (70%), increased aggregated reticulocyte counts (94%), hyperglobulinaemia (80%), hyperbilirubinaemia (53%), and increased liver enzymes (47%). Six of 25 affected cats died (four) or were euthanased (two) at ages ranging from 1.3 to 11.3 years (median 4.1) presumably because of PK-deficiency. These findings emphasise that PK deficiency shows variation in age of onset and severity of signs. As PK-deficient cats can be asymptomatic testing for PK deficiency before breeding is strongly recommended.

摘要

本研究的目的是检查患有丙酮酸激酶(PK)缺乏症的阿比西尼亚猫和索马里猫的临床体征、实验室参数及病程。对25只PK缺乏症猫的病程进行了0.8至11.3年(中位数4.3年)的跟踪。据主人反映,11只猫(年龄0.8至7.8岁,中位数4.4岁)未表现出症状。14只猫(年龄0.1至5岁,中位数1.7岁)的主人注意到有嗜睡(10只)、腹泻(7只)、黏膜苍白(6只)、食欲不振(6只)、被毛质量差(6只)、体重减轻(4只)、黄疸(4只)和异食癖(2只)。16只猫在诊断前至少有过一次繁殖经历。实验室异常包括贫血(70%)、网织红细胞聚集计数增加(94%)、球蛋白血症(80%)、高胆红素血症(53%)和肝酶升高(47%)。25只患病猫中有6只在1.3至11.3岁(中位数4.1岁)时死亡(4只)或被安乐死(2只),推测原因是PK缺乏症。这些发现强调PK缺乏症在发病年龄和体征严重程度上存在差异。由于PK缺乏症猫可能无症状,强烈建议在繁殖前对PK缺乏症进行检测。