Variety 4: Cystine Stones
The Role of Genetics in Cystine Stone Formation
Cystine stones are a rare type of kidney stone that can affect both men and women. They are composed of the amino acid cystine, which is a building block of proteins. Cystine stones form due to a genetic condition called cystinuria, which causes the kidneys to excrete excessive amounts of cystine into the urine.
Cystinuria is an inherited disorder, so individuals with a family history of cystine stones are at a higher risk of developing them. The condition affects both men and women, although women may be more prone to recurrent cystine stones due to hormonal factors.
Preventing cystine stones involves managing the underlying genetic condition. Individuals with cystinuria should work closely with their healthcare providers to develop a personalized treatment plan. This plan may include dietary modifications, increased fluid intake, and medications to help control cystine levels in the urine.
It’s also essential for individuals with cystinuria to monitor their kidney function regularly. Regular check-ups and diagnostic tests can help detect cystine stones early, allowing for prompt treatment and prevention of complications. (4)