Understand the goals of cystinuria treatment to manage your condition
Cystinuria is a rare, lifelong, and serious genetic disorder that requires daily vigilance because of continuous buildup of cystine, an essential component of proteins, in the urine. Even if you are not experiencing pain, you are at risk for stone formation. It is critical to work with your doctor to establish an optimal treatment plan focused on becoming stone-free by managing your cystine levels.
A guide to your goals: help prevent the next cystine stone from forming
You can take an active role in achieving the goal of stone-free without surgery by knowing the facts—and your cystine level.
Understand your levels
Cystine kidney stones can form when your cystine level is above the line of solubility (generally <250 mg/L).
Prevent the next stone
Keeping your cystine level below this solubility line can help prevent the next cystine stone from forming.
Stay on track
A 24-hour urine test is the best way of knowing if your cystine level is below the line and in turn, on the optimal treatment plan.
Don’t wait until the next stone forms to see your doctor. Take control of your cystinuria by staying in communication with your doctor and monitoring your cystine level.
Here are 4 ways to get your cystine level below the line:
Consume at least 3 liters of fluid per day (10 glassfuls, 10 ounces each) to achieve a minimum urine output of 2 liters per day on a consistent basis.
Maintain a urinary pH level between 6.5 and 7.0, often made possible by taking potassium alkali.
Eat a diet low in protein and sodium, and high in fruits and vegetables.
Use cystine-binding thiol drugs, like THIOLA® (tiopronin), in conjunction with therapeutic lifestyle changes.
While procedures exist to help remove cystine kidney stones, they do not treat the underlying disease and are not effective at preventing stone formation.
The best way to get to stone-free is to stay on track with your treatment plan and regularly monitor your cystine level so that your doctor can optimize your THIOLA dosage and treatment plan.
Have more questions? Connect to more resources and get the support you need to reach your treatment goals.
Talk to your doctor about establishing a treatment plan focused on preventing your next stone. Stone prevention results in:
Avoiding surgery whenever possible, as surgery does not prevent cystine stones from recurring
Keeping your kidneys working normally to prevent long-term damage
Getting cystine under 250 mg/L can help you become stone-free
People with cystinuria cannot process cystine properly, leading to excess levels of cystine in the urine (generally >250 mg/L) and, ultimately, the continual formation of cystine kidney stones.
Understand the science behind cystinuria
Cystine kidney stones (pictured below) are different from other kinds of kidney stones—they are often larger, harder, occur more frequently, and often require surgery to remove. Pain and disruption of normal daily life are often unfortunate consequences of living with cystinuria.
Photo credit: Florian Buchkremer
Manage your cystine stones by keeping cystine levels below the line of solubility (generally <250 mg/L).
Fast facts about living with cystinuria
Cystinuria can pose significant challenges. Read some quick facts below to help you better understand your condition.
About 1 in 10,000 people in the United States live with cystinuria.
More than 80% of people with cystinuria develop cystine kidney stones by age 20.
Cystinuria is the cause of approximately 10% of all kidney stones in children.
It has been reported that people with cystinuria experience an average of 1 stone formation per year.
Up to 70% of people with cystinuria experience long-term kidney disease.
People with cystinuria undergo an average of 1 surgical procedure every 3 years, totaling an average of 7 surgical procedures by middle age.
The higher your cystine levels, the more likely you are to form stones
Your doctor diagnosed you with cystinuria because you have excess cystine in your urine and are at risk of chronic stones.
The American Urological Association emphasizes the importance of using a 24-hour urine test not only to diagnose cystinuria, but as a way for you and your doctor to monitor your cystine level.
Your doctor may also perform a stone analysis or order imaging tests to help understand more about your condition.
A 24-hour urine test is important for evaluation and proper management of cystinuria. Regular monitoring of cystine via 24-hour urine collection can provide your doctor with important information for optimizing your treatment plan and THIOLA tablets dose.
THIOLA® (tiopronin) tablets are a prescription medicine used to help prevent the formation of cystine (kidney) stones in patients who were not successfully treated with dietary changes and increased fluid intake, or patients who have had side effects with the drug d-penicillamine.
Important Safety Information
THIOLA is not for everyone. You should not take THIOLA if you:
- Are pregnant or plan to become pregnant
- Are breastfeeding or plan to breastfeed
- Have a history of blood disorders including aplastic anemia (your bone marrow does not make enough new cells), agranulocytosis (decrease in certain white blood cells), or thrombocytopenia (decrease in the number of platelets)
The safety and effectiveness of THIOLA have not been established in children under 9 years of age, and there are no well-controlled studies in pregnant women. High doses of THIOLA in pregnant laboratory animals have been shown to harm the fetus, so you should talk about these risks with your doctor to determine whether THIOLA is right for you. No long-term animal studies have been performed to see whether THIOLA can cause cancer, so you should discuss these risks with your doctor.
While you are taking THIOLA, your doctor will monitor you closely for signs and symptoms of possible complications. Your doctor will routinely do certain blood and urine tests, and yearly scans of your abdomen to look at the size and appearance of kidney stones. THIOLA should only be used under the close supervision of your doctor.
THIOLA can cause serious side effects or potential complications, and some of these could be fatal. Therefore, it is important to call your doctor right away if you have any side effects.
Side effects associated with THIOLA include a drug-related fever that typically occurs during the first month of treatment. If this occurs, talk with your doctor, who may discontinue treatment until the fever goes away.
You may notice a reduced sense of taste while taking THIOLA, which will eventually go away. Some patients also report wrinkling or thin, fragile skin during long-term treatment.
Other side effects of THIOLA may include an itchy rash that is found on many parts of your body. This typically occurs during the first few months of treatment, and antihistamines can help reduce the itching. The rash will usually disappear once you stop taking THIOLA. Less often, patients who take THIOLA for more than 6 months may develop a rash that is usually located on the upper body and is very itchy. It typically goes away slowly after discontinuing treatment and returns after re-starting treatment.
Some patients may develop a drug hypersensitivity reaction to THIOLA that includes fever, joint pain, and swollen lymph nodes. If this occurs, your doctor may discontinue THIOLA.
THIOLA can cause serious and potentially fatal blood disorders, including aplastic anemia (your bone marrow does not make enough new cells), agranulocytosis (decrease in certain white blood cells), or thrombocytopenia (decrease in the number of platelets). Call your doctor immediately if you have any signs or symptoms such as fever, sore throat, chills, bleeding, or if you are bruising more easily.
Although THIOLA may be less toxic than d-penicillamine, it could potentially cause all of the serious side effects reported for d-penicillamine. No deaths have been reported as a result of THIOLA treatment; however, fatal outcomes have been reported with certain complications of d-penicillamine therapy, including reduced white blood cells, red blood cells, or platelets; Goodpasture's syndrome (an autoimmune disorder that affects the lungs and kidneys); and myasthenia gravis (an autoimmune disorder that causes muscles to weaken). Do not take THIOLA if you have a history of these conditions.
Additional side effects that have been reported during treatment with d-penicillamine and that might occur during THIOLA treatment include: decreased sense of smell, nausea, vomiting, diarrhea or soft stools, loss of appetite, abdominal pain, bloating, gas, sore throat, sores in the mouth, hives, warts, swelling of the throat, difficulty breathing, shortness of breath, fatigue or weakness, muscle or joint pain, swelling in your legs or fluid build-up in the lungs, lung or kidney problems, and blood or high amounts of protein in urine. These side effects are more likely to develop during THIOLA therapy in patients who had previous reactions to d-penicillamine. Talk to your doctor about any unusual side effects.
Seek immediate medical attention and discontinue THIOLA if you notice symptoms such as fever, sore throat, chills, bleeding, easy bruising, coughing up blood, muscle weakness, blistering or raw areas on the skin or mucous membranes, joint pain, swelling of the lymph nodes, or swelling in your legs, as these may be signs of a serious reaction to the drug.
Jaundice (yellow appearance of the skin and whites of the eyes) and abnormal liver function tests have been reported during THIOLA treatment for conditions unrelated to cystine stones.
Call your doctor for medical advice about side effects. You may report negative side effects to Retrophin® Medical Information at 1-877-659-5518, or to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.
Please see full Prescribing Information.