PATHOLOGIES
Cystine Stones
Cystine stones are a rare type of kidney stone that occur in individuals with a genetic disorder called cystinuria. This condition causes the kidneys to excrete excessive amounts of the amino acid cystine into the urine, where it crystallizes and forms stones. Cystine stones tend to recur frequently and are often larger than other types of kidney stones.
Cystine Stones
Symptoms include severe pain in the back or side, blood in the urine, frequent urinary tract infections, and, in severe cases, urinary obstruction.
Diagnosis involves imaging tests such as CT scans or ultrasounds to detect the stones and urine analysis to identify high levels of cystine. Genetic testing may confirm cystinuria in affected individuals.
Treatment typically involves increased fluid intake to dilute the urine and medications such as alpha-mercaptopropionylglycine (tiopronin) or penicillamine to reduce cystine crystallization. Urinary alkalization with potassium citrate or sodium bicarbonate is also used to make the urine less acidic, as cystine is less likely to crystallize in alkaline urine.
Prevention focuses on maintaining high fluid intake throughout the day and night, dietary adjustments to limit sodium and protein intake, and adherence to prescribed medications. Regular follow-ups with a healthcare provider are essential to monitor for recurrence and manage cystinuria effectively.
