Hereditary xanthinuria and urolithiasis in a domestic shorthair cat

Abstract A 2-year-old domestic shorthair cat was presented with a history of hematuria, stranguria, and intermittent urethral obstruction. Urine sedimentation showed hematuria, pyuria, and yellow-brown, amorphous, and spherical crystals. Upon surgical correction of the obstructed urethra by perineal urethrostomy, many dark yellow to grey, irregular, gravel-like to millet grain-sized uroliths were found. These uroliths were shown to consist of 100 % xanthine by crystallography. The urinary xanthine concentration was high. The cat subsequently developed bilateral nephroliths, recurrent urinary tract infections, and chronic kidney failure. Dietary management with a low-purine diet failed in part due to poor compliance, and the cat was euthanized at 6 years of age. Xanthinuria is a rare inborn error of metabolism in cats and some other species but should be considered as a differential diagnosis in cases of feline urolithiasis. No associated molecular genetic defect has been elucidated, and management of these cases is difficult. In the absence of calculi for analysis, measuring urinary xanthine concentration can help in diagnosing this metabolic defect.
Source: Comparative Clinical Pathology - Category: Pathology Source Type: research

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Source: World Journal of Urology - Category: Urology & Nephrology Source Type: research
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Source: International Journal of Nephrology and Renovascular Disease - Category: Urology & Nephrology Tags: Int J Nephrol Renovasc Dis Source Type: research
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Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research
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Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
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Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Make Your Diagnosis Source Type: research
Purpose of review Uromodulin (UMOD), also known as Tamm–Horsfall protein, is the most abundant protein in human urine. UMOD has multiple functions such as protection against urinary tract infections and nephrolithiasis. This review outlines recent progress made in UMOD's role in renal physiology, tubular transport, and mineral metabolism. Recent findings UMOD is mostly secreted in the thick ascending limb (TAL) and to a lesser degree in the distal convoluted tubule (DCT). UMOD secretion is regulated by the calcium-sensing receptor. UMOD upregulates ion channels [e.g., renal outer medullary potassium channel, tra...
Source: Current Opinion in Nephrology and Hypertension - Category: Urology & Nephrology Tags: MOLECULAR CELL BIOLOGY AND PHYSIOLOGY OF SOLUTE TRANSPORT: Edited by Vivek Bhalla and Alan C. Pao Source Type: research
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Source: BMC Veterinary Research - Category: Veterinary Research Authors: Tags: Research article Source Type: research
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Source: World Journal of Urology - Category: Urology & Nephrology Source Type: research
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Source: Actas Urologicas Espanolas - Category: Urology & Nephrology Authors: Tags: Actas Urol Esp Source Type: research
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Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
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