Erles K, Mugford A, Barfield D, Leeb T, Kook P H
Department of Pathology and Pathogen Biology, The Royal Veterinary College, Hatfield AL9 7TA, UK.
Department of Clinical Science and Services, The Royal Veterinary College, Hatfield AL9 7TA, UK.
J Small Anim Pract. 2018 Apr;59(4):253-256. doi: 10.1111/jsap.12678. Epub 2017 Apr 8.
An 11-month-old Border collie presented collapsed and continued to deteriorate rapidly despite supportive treatment. The dog had a history of failure to thrive and recurring respiratory infection. Laboratory abnormalities included neutrophilic leucocytosis, Heinz body anaemia, hyperammonaemia, hyperbilirubinaemia, proteinuria and hypocobalaminaemia. Post-mortem examination revealed multi-focal necrosis within the heart, kidneys, pancreas, liver, meninges and cerebral cortex. Fungal hyphae in lesions were identified as Scedosporium prolificans following culture. Subsequent genotyping confirmed that the dog carried the CUBN:c.8392delC mutation in a homozygous state, verifying hereditary cobalamin deficiency (a.k.a. Imerslund-Gräsbeck syndrome). Cobalamin deficiency may have been a predisposing factor for the development of systemic fungal infection in this dog.
一只11个月大的边境牧羊犬出现虚脱症状，尽管接受了支持性治疗，但病情仍迅速恶化。这只狗有发育不良和反复呼吸道感染的病史。实验室检查异常包括嗜中性白细胞增多、海因茨小体贫血、高氨血症、高胆红素血症、蛋白尿和低钴胺素血症。尸检显示心脏、肾脏、胰腺、肝脏、脑膜和大脑皮质有多灶性坏死。病变中的真菌菌丝经培养鉴定为多育赛多孢菌。随后的基因分型证实这只狗纯合携带CUBN:c.8392delC突变，证实为遗传性钴胺素缺乏（又称伊默斯伦德-格雷斯贝克综合征）。钴胺素缺乏可能是这只狗发生全身性真菌感染的一个易感因素。
