CYSTINURIA - Watsons Health

CYSTINURIA

Stones that form and stick in the kidneys, bladder, and ureters are present in a condition called cystinuria. This defect will be inherited from both parents to their children.

In this condition, cysteine develops into stones instead of going back into the bloodstream. This can hurt until the stones pass through urination and very large stones require surgical treatments for them to be removed.

Available treatments help handle pain and prevent more stones from building up.

According to a study in the European Journal of Urology, symptoms usually first occur in young adults although cystinuria is a lifelong condition. There have been cases that are rare in adolescents and in infants. The symptoms are the following:

  • nausea and vomiting
  • blood in the urine
  • pain near the groin, pelvis, or abdomen
  • severe pain in the side or the back, almost always on one side

Cystinuria is asymptomatic (causes no symptoms) when there are no stones. However, each time stones build up in the kidneys, symptoms will return.

The stones come again more than once.

DIAGNOSIS

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/MEDICATIONS

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.

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