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Abstract：
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
摘要：
方法：4例确诊猫黄原酸尿症，根据谱系分析，还有一例疑似病例，已确定。临床表现多种多样，包括血尿，Polakiuria,排尿困难,尿道和输尿管梗阻。所有猫都有上尿路尿路结石。通过尿石或尿液的红外质谱获得诊断。临床体征在3-8月龄时开始,并且在引入蛋白质限制饮食后的中长期中在所有猫中减少。四只猫是cast割的雄性，一只是雌性。病例包括四只Munchkin家系猫和一只无关的家养短跑猫。所有四只受影响的Munchkin家系猫都是相关的，三例是兄弟姐妹，第四例是同父异母。无法为家养短跑猫建立与Munchkin血统的联系。针对这只猫提出的候选致病遗传变异（XDHp.A681V）被排除在Munchkin家族中。
结论：所有受影响的猫都存在诊断挑战，常规尿液分析不足以获得诊断。由于无法检索尿石以进行分析，并且在常规尿液分析中无法仅使用晶体形态进行诊断，因此猫黄嘌呤尿症的病例可能未被诊断。在尿路结石无法进入或缺乏的疑似病例中，尿液的代谢筛查可能提供一种有效的机制来确认黄原尿症。在这个系列中,雄性猫更常见。它们的解剖结构可能会增加黄嘌呤尿石症继发下尿路征象和尿道梗阻的风险。作为长期管理的一部分，蛋白质限制饮食似乎可以减少临床症状。
结论：发现四只密切相关的Munchkin猫和一只家养的shorthair猫患有可疑的遗传性疾病，导致尿液中黄嘌呤含量高。病例系列研究了他们临床症状的异同，以及获得正确诊断所经历的困难。所有猫都有上尿路结石，需要对结石或尿液进行代谢测试才能诊断。所有猫在临床症状开始时都很年轻，并且都在高蛋白饮食。四只猫是被剥脱的雄性，一只是被剥脱的雌性。在Munchkin家族中排除了可能导致家养短毛猫疾病的遗传变异。猫尿液中黄嘌呤水平高的病例可能被诊断不足，因为结石可能无法进行检测。在这个系列中,雄性猫更常见。它们的解剖结构可能会增加下尿路体征的风险。作为长期管理的一部分，蛋白质限制饮食似乎可以减少临床症状。
结论：所有受影响的猫都存在诊断挑战，常规尿液分析不足以获得诊断。由于无法检索尿石以进行分析，并且在常规尿液分析中无法仅使用晶体形态进行诊断，因此猫黄嘌呤尿症的病例可能未被诊断。在尿路结石无法进入或缺乏的疑似病例中，尿液的代谢筛查可能提供一种有效的机制来确认黄原尿症。在这个系列中,雄性猫更常见。它们的解剖结构可能会增加黄嘌呤尿石症继发下尿路征象和尿道梗阻的风险。作为长期管理的一部分，蛋白质限制饮食似乎可以减少临床症状。
结论：发现四只密切相关的Munchkin猫和一只家养的shorthair猫患有可疑的遗传性疾病，导致尿液中黄嘌呤含量高。病例系列研究了他们临床症状的异同，以及获得正确诊断所经历的困难。所有猫都有上尿路结石，需要对结石或尿液进行代谢测试才能诊断。所有猫在临床症状开始时都很年轻，并且都在高蛋白饮食。四只猫是被剥脱的雄性，一只是被剥脱的雌性。在Munchkin家族中排除了可能导致家养短毛猫疾病的遗传变异。猫尿液中黄嘌呤水平高的病例可能被诊断不足，因为结石可能无法进行检测。在这个系列中,雄性猫更常见。它们的解剖结构可能会增加下尿路体征的风险。作为长期管理的一部分，蛋白质限制饮食似乎可以减少临床症状。
