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一只贫血的丙酮酸激酶缺乏的索马里猫中的胆红素胆结石和血铁沉着症

Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat.

作者信息

van Geffen C, Savary-Bataille K, Chiers K, Giger U, Daminet S

机构信息

Department of Medicine and Clinical Biology of Small Animals, Ghent University, Salisburylaan 133, B-9820 Merelbeke, Belgium.

出版信息

J Small Anim Pract. 2008 Sep;49(9):479-82. doi: 10.1111/j.1748-5827.2008.00568.x. Epub 2008 Aug 5.

Abstract

A Somali cat was presented with recurrent anorexia, lethargy, vomiting and icterus. A macrocytic-hypochromic, regenerative haemolytic anaemia was identified and hereditary pyruvate kinase deficiency was confirmed by means of breed-specific DNA mutation analysis. The case was complicated by the presence of markedly elevated serum liver enzyme activities, hyperbilirubinaemia, coagulopathy and ultrasonographic evidence of gall bladder choleliths and extrahepatic bile duct obstruction. The choleliths consisted of 100 per cent bilirubin, likely because of chronic haemolysis and haeme degradation. In conclusion, haemosiderosis and bilirubin cholelithiasis can be a consequence of chronic haemolysis in pyruvate kinase-deficient cats, as seen in human beings with a variety of chronic haemolytic disorders.

摘要

一只索马里猫出现反复厌食、嗜睡、呕吐和黄疸症状。诊断为大细胞低色素性再生性溶血性贫血,并通过特定品种的DNA突变分析确诊为遗传性丙酮酸激酶缺乏症。该病例并发血清肝酶活性显著升高、高胆红素血症、凝血病,超声检查显示胆囊结石和肝外胆管梗阻。结石由100%的胆红素组成,可能是由于慢性溶血和血红素降解所致。总之,正如在患有各种慢性溶血性疾病的人类中所见,含铁血黄素沉着症和胆红素结石症可能是丙酮酸激酶缺乏猫慢性溶血的结果。

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