PATHOLOGIES
Xanthine stones
Xanthine stones are an extremely rare type of kidney stone caused by an inherited genetic enzyme deficiency. This deficiency impairs the breakdown of xanthine, a byproduct of purine metabolism, leading to its accumulation and crystallization in the urine. These stones are typically associated with conditions like hereditary xanthinuria, where the body lacks sufficient xanthine oxidase enzyme to process xanthine into uric acid.
Xanthine stones
Symptoms of xanthine stones are similar to other types of kidney stones and include severe pain in the lower back or sides, blood in the urine (hematuria), urinary obstruction, and, in some cases, recurrent urinary tract infections.
Diagnosis involves imaging studies such as CT scans or ultrasounds to detect the stones and specialized urine tests to identify high levels of xanthine. Genetic testing may confirm hereditary xanthinuria in affected individuals.
Treatment focuses on hydration to dilute the urine and reduce xanthine concentration, along with dietary modifications to limit purine intake. In severe cases, surgical intervention or minimally invasive procedures like lithotripsy may be required to remove large stones.
Prevention relies on maintaining adequate hydration to prevent xanthine crystallization and adhering to dietary recommendations. Since xanthine stones are linked to a rare metabolic condition, individuals with hereditary xanthinuria often require ongoing monitoring and specialized care to manage their condition effectively.
