Cystinuria is usually diagnosed when somebody is experiencing incidents of kidney stones. To determine if the stones are made out of cysteine, your doctor will perform a test.
Genetic testing is rarely conducted. Other diagnostic testing include:
24-hour urine collection. In this test, your urine will be gathered over the whole day and then be analyzed in a laboratory.
Urinalysis. This is an inspection of urine in a laboratory that may include looking at the urine’s color and physical appearance, observing the urine under a microscope, and performing chemical tests to distinguish specific substances like cystine.
Intravenous pyelogram. This is an X-ray examination of the bladder, kidneys, and ureters. This technique, to see the stones, uses a dye in the bloodstream.
Abdominal CT scan. Stones may build up in the kidneys and this type of CT scan uses X-rays to make images of the forms inside the abdomen.
Treatment for the stones that form due to cystinuria include:
Adjusting pH balance. Cystine is more soluble in urine at a higher pH; that is why potassium citrate or acetazolamide are some alkalinizing agents prescribed to help increase the pH of urine to make cystine more soluble.
Dietary changes. According to a study in the European Journal of Urology, it can be beneficial if you reduce salt intake to less than 2g per day to prevent stone formation.
Medications. Chelating agents such as D-penicillamine and alpha-mercaptopropionylglycine will help to dissolve cystine crystals. However, D-penicillamine, even though effective, has numerous side effects.
Surgery. Surgical treatments are needed to remove stones that are huge and painful or blocks one of the tubes leading from the kidney. There exist few various types of surgeries such as Extracorporeal shock wave lithotripsy (ESWL) and Percutaneous nephrostolithotomy (or nephrolithotomy) to break up the stones.