Uric acid

It is essential for Lesch-Nyhan disease patients to control uric acid production to prevent gouty arthritis, kidney stones, and renal failure (read more about this in the Definition section). Effective control of the uric acid requires two ingredients.

The first is to drink lots of fluids to keep generously hydrated. This is important to keep the uric acid flowing through the kidneys and to the bladder where it can be eliminated in the urine. If small uric acid stones form, they will be washed away with the urine. Special attention is needed to avoid dehydration during illnesses that include vomiting or fevers.

The second ingredient for controlling uric acid is the medication allopurinol. This medication works by slowing down the production of uric acid. Allopurinol is almost always necessary since hydration alone is not enough.

Other medications that lower blood uric acid levels by increasing its excretion into the urine are not used in Lesch-Nyhan disease. Though they are good for reducing the risk of gout and tophi, they actually increase the risk of kidney stones.

Even with good treatment, some people with Lesch-Nyhan disease still develop kidney stones. These stones are often comprised of mixtures of uric acid, xanthine, hypoxanthine, and oxypurinol. If stones form, it is necessary to get help from a kidney specialist. The specialist can use lithotripsy to break the stones into smaller pieces. If this does not work, it may be necessary to remove the stone surgically.