Cystinuria synonyms

Cystinuria is a rare genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys. This condition leads to the formation of cystine stones in the urinary tract, which can cause significant pain and complications if left untreated. Cystinuria is often diagnosed in childhood or early adulthood, and its symptoms can vary in severity from person to person.

Synonyms for cystinuria:

• Cystine stone disease


• Cystine urolithiasis


• Cystinosis


• Cystinuric syndrome

Cystinuria is caused by mutations in the genes responsible for the transport of cystine in the kidneys. These mutations disrupt the normal reabsorption process, leading to the accumulation of cystine in the urine. Over time, the excess cystine can crystallize and form stones in the urinary tract, including the kidneys, ureters, and bladder.

The symptoms of cystinuria can include recurrent episodes of kidney stones, which may cause severe pain in the back, sides, and lower abdomen. Other signs can include blood in the urine, frequent urination, and urinary tract infections. The size and number of stones can vary, and some individuals may pass small stones without experiencing symptoms.

Treatment for cystinuria:
Currently, there is no cure for cystinuria, but various treatment options are available to manage the condition and prevent stone formation. These may include:

• Increased fluid intake to dilute the concentration of cystine in the urine


• Medications to reduce cystine levels or increase its solubility


• Dietary modifications, such as reducing salt and protein intake


• Regular monitoring of urine cystine levels and stone formation through medical check-ups


• Extracorporeal shock wave lithotripsy (ESWL) or surgical intervention to remove larger stones

It is important for individuals with cystinuria to work closely with healthcare professionals to develop a personalized treatment plan. With proper management, individuals with cystinuria can lead relatively normal lives and minimize the impact of stone formation on their overall health.