一群曼基康猫家族和一只无关的家猫中的黄嘌呤尿症
摘要来源：https://journals.sagepub.com/doi/full/10.1177/1098612X241241408
一校：郭嘉恩
二校：kenda
摘要
病例系列总结
确诊的猫黄嘌呤尿症病例共有四例，另有一例基于家谱分析的疑似病例。临床表现多样，包括血尿、尿频、排尿困难以及尿道和输尿管梗阻。所有猫都有上尿路结石。通过尿结石或尿液的红外质谱分析确诊。临床症状在3到8个月龄时出现，但所有猫都接受了蛋白质限制饮食，中长期后，症状都有所减轻。病例包括四只去势公猫，一只绝育母猫。其中包括四只曼基康纯种猫和一只无关的家猫。四只患病的曼基康猫彼此有亲缘关系，其中三只为同窝猫，另一只是同父异母的半同胞。家猫与曼基康猫的家谱没有联系。一种可能导致该家猫发病的基因变异（XDH p.A681V）被提出，但在曼基康猫家族中被排除。
相关性与新信息
所有患病猫在诊断上都面临挑战，常规尿液分析不足以确诊。由于结石无法被提取进行分析或单靠常规尿液分析中的晶体形态无法进行诊断，猫黄嘌呤尿症病例可能被漏诊。尿液代谢筛查可能为无法提取或没有结石的疑似病例提供有效的确诊机制。在本病例系列中，公猫更为常见。其解剖结构可能增加了由于黄嘌呤结石形成而导致下尿路症状和尿道梗阻的风险。长期管理中，蛋白质限制饮食似乎能够减轻临床症状。
通俗语言总结
四只有亲缘关系的曼基康猫和一只家猫被发现患有疑似遗传性疾病，导致尿液中黄嘌呤水平升高。该病例系列研究了它们临床症状的相似性和差异性，以及确诊过程中遇到的困难。所有猫都有上尿路结石，并且需要通过对结石或尿液进行代谢检测来确诊。所有猫的临床症状都从幼年期开始，并且都处于高蛋白饮食中。四只猫为绝育公猫，一只为绝育母猫。一种可能导致家猫患病的基因变异在曼基康猫家族中被排除。由于结石可能无法提取进行检测，猫黄嘌呤水平升高的病例可能被漏诊。在本病例系列中，雄猫更为常见。其解剖结构可能增加了下尿路症状的风险。长期管理中，蛋白质限制饮食似乎能够减轻临床症状
原文：
Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat
Abstract
Case series summary
Four confirmed cases of xanthinuria in cats, and one suspected case based on pedigree analysis, were identified. Clinical presentations varied and included haematuria, pollakiuria, dysuria, and urethral and ureteral obstruction. All cats had upper urinary tract uroliths. Diagnosis was obtained through infrared mass spectrometry of uroliths or urine. Clinical signs commenced at 3–8 months of age and reduced in all cats in the medium to long term after the introduction of a protein-restricted diet. Four cats were castrated males and one was a spayed female. Cases consisted of four Munchkin pedigree cats and one unrelated domestic shorthair cat. All four affected Munchkin pedigree cats were related, with three cases full siblings and the fourth case a half-sibling. No connection to the Munchkin pedigree could be established for the domestic shorthair cat. A candidate causative genetic variant (XDH p.A681V) proposed for this cat was excluded in the Munchkin family.
Relevance and novel information
All affected cats presented diagnostic challenges and routine urinalysis was insufficient to obtain a diagnosis. Cases of feline xanthinuria may be underdiagnosed due to situations where uroliths cannot be retrieved for analysis and there is an inability to make a diagnosis using crystal morphology alone on routine urinalysis. Metabolic screening of urine may provide an effective mechanism to confirm xanthinuria in suspected cases where uroliths are inaccessible or absent. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs and urethral obstruction developing secondary to xanthine urolithiasis. A protein-restricted diet appears to reduce clinical signs as part of long-term management.
Plain language summary
Four closely related Munchkin cats and one domestic shorthair cat were found with a suspected genetic disease causing high levels of xanthine in their urine. The case series looks at similarities and differences in their clinical signs, as well as difficulties experienced in obtaining a correct diagnosis. All cats had upper urinary tract stones and required metabolic testing of the stones or urine to diagnose. All cats were young when their clinical signs started and were on a high-protein diet. Four cats were desexed males and one was a desexed female. A genetic variant that may have caused the disease in the domestic shorthair cat was ruled out in the Munchkin family. Cases of high xanthine levels in feline urine may be underdiagnosed as the stones may not be accessed for testing. In this case series, male cats were more common. Their anatomy may increase the risk of lower urinary tract signs. A protein-restricted diet appears to reduce clinical signs as part of long-term management.
