What is it?

Cystinuria is a rare condition in which stones made from an amino acid called cysteine form in the kidney, ureter, and bladder. The condition is passed down through families.

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Signs & symptoms

* Blood in the urine
* Flank pain or pain in the side or back. Pain is most often on one side. It is rarely felt on both sides. Pain is often severe. It may get worse over days.
* Pain in the pelvis, groin, genitals, or between the upper abdomen and back.

Diagnosis

The condition is most often diagnosed after an episode of kidney stones. Testing the stones after they are removed shows that they are made of cystine.
Unlike calcium-containing stones, cystine stones do not show up well on plain x-rays.
Tests that may be done to detect these stones and diagnose the condition include:
* 24-hour urine collection
* Abdominal CT scan, or ultrasound
* Intravenous pyelogram (IVP)
* Urinalysis

Treatment

The goal of treatment is to relieve symptoms and prevent more stones from forming. Treatment involves drinking plenty of fluids, especially water, to produce large amounts of urine. A person should drink water at night as well so he will get up at night at least once to pass urine.
In some cases, fluids may need to be given through a vein (by IV).
Making the urine more alkaline may help dissolve the cystine crystals. This may be done with use of potassium citrate or sodium bicarbonate. Eating less salt can also decrease cystine release and stone formation.
A patient may need pain relievers to control pain in the kidney or bladder area when you pass stones. Smaller stones (of 5 mm or less than 5 mm) most often pass through the urine on their own. Larger stones (more than 5 mm) may need extra treatments. Some large stones may need to be removed using procedures such as:
* Extracorporeal shock wave lithotripsy (ESWL): Sound waves are passed through the body and are focused on the stones to break them into small, passable fragments. ESWL may not work well for cystine stones because they are very hard as compared with other types of stones.
* Percutaneous nephrostolithotomy or nephrolithotomy: A small tube is placed through the flank directly into the kidney. A telescope is then passed through the tube to fragment the stone under direct vision.
* Ureteroscopy and laser lithotripsy: The laser is used to break up the stones and can be used to treat stones that are not too large.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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