CystinuriaSymptoms, Doctors, Treatments, Advances & More
Learn About Cystinuria
Cystinuria is a rare condition in which stones made from an amino acid called cysteine form in the kidney, ureter, or bladder. Cystine is formed when two molecules of an amino acid called cysteine are bound together. The condition is passed down through families.
Stones - cystine; Cystine stones
To have the symptoms of cystinuria, you must inherit a variant gene from both parents. Your children will also inherit a copy of the variant gene from you.
Cystinuria is caused by too much cystine in the urine. Normally, most cystine dissolves and returns to the bloodstream after entering the kidneys. People with cystinuria have a genetic change that interferes with this process. As a result, cystine builds up in the urine and forms crystals or stones. These crystals may get stuck in the kidneys, ureters, or bladder.
About one in every 7000 people have cystinuria. Cystine stones are most common in young adults under age 40. Less than 3% of urinary tract stones are cystine stones.
Symptoms include:
- 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. You may also feel pain in the pelvis, groin, genitals, or between the upper abdomen and back.
The goal of treatment is to relieve symptoms and prevent more stones from forming. A person with severe symptoms may need to go into the hospital.
Treatment involves drinking plenty of fluids, especially water, to produce large amounts of urine. You should drink at least 6 to 8 glasses per day. You should drink water at night as well so that you 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 by taking potassium citrate or sodium bicarbonate. Eating less salt can also decrease cystine release and stone formation.
You may need pain relievers to control pain in the kidney or bladder area when you pass stones. Smaller stones (5 mm or less in diameter) 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: A laser is used to break up the stones and can be used to treat stones that are not too large.
Urinary Stone Center
Dr. Marshall L. Stoller specializes in providing care for patients with urinary stone disease. His expertise includes minimally invasive techniques, such as endourology and laparoscopy. He helped spearhead a comprehensive program in the management of urinary stone disease, utilizing and testing a variety of lithotripters, a noninvasive device that pulverizes urinary stones. After completing his undergraduate studies at the University of California, Berkeley, Stoller earned his medical degree at Baylor College of Medicine. He then pursued residencies in general surgery and urology at UCSF before becoming an instructor and research fellow at the University of New South Wales and its affiliated hospitals in Sydney, Australia. He returned to UCSF as chief resident in urology and then joined the medical staff. Stoller has received many awards, including grand prize in the annual Jack Lapides Essay Contest on Urodynamic and Neurourology Research. He has received the Distinction in Teaching Award from the UCSF Academic Senate. For more information about his research, please visit Stoller's lab website at stollerlab.ucsf.edu . Dr. Stoller is rated as an Elite provider by MediFind in the treatment of Cystinuria. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Kidney Stones, Cystinuria, Hydronephrosis, Ureteroscopy, and Lithotripsy. Dr. Stoller is board certified in American Board Of Urology, Urology. Dr. Stoller is currently accepting new patients.
Matthew Bultitude practices practicing medicine in London, United Kingdom. Mr. Bultitude is rated as an Elite expert by MediFind in the treatment of Cystinuria. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Cystinuria, Kidney Stones, Enlarged Prostate (BPH), Ureteroscopy, and Lithotripsy.
AZ Klina
Kay Thomas practices practicing medicine in Brasschaat, Belgium. Thomas is rated as an Elite expert by MediFind in the treatment of Cystinuria. They are also highly rated in 8 other conditions, according to our data. Their clinical expertise encompasses Cystinuria, Kidney Stones, Non-Muscle Invasive Bladder Cancer, Lithotripsy, and Ureteroscopy.
Cystinuria is a chronic, lifelong condition. Without treatment, stones commonly return. However, the condition rarely results in kidney failure. It does not affect other organs.
Complications may include:
- Bladder injury from stone
- Kidney injury from stone
- Kidney infection
- Chronic kidney disease
- Ureteral obstruction
- Urinary tract infection
Contact your health care provider if you have symptoms of urinary tract stones.
There are medicines that can be taken so cystine in the urine does not form a stone. Ask your provider about these medicines and their side effects.
Any person with a known history of stones in the urinary tract should drink plenty of fluids to regularly produce a high amount of urine. This allows stones and crystals to leave the body before they become large enough to cause symptoms. Decreasing your intake of salt or sodium will help as well.
Summary: This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.
Summary: The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the dise...
Published Date: January 12, 2026
Published By: Kelly L. Stratton, MD, FACS, Associate Professor, Department of Urology, University of Oklahoma Health Sciences Center, Oklahoma City, OK. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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