Cystinosis

What are the signs and symptoms of cystinosis?

Children with cystinosis often first develop kidney problems because the buildup of cystine affects the kidney, resulting in increased urination, impaired growth and poor weight gain.

What tests are used to diagnose cystinosis?

We typically use blood and urine tests to diagnose cystinosis. Blood tests usually show high levels of cystine in the white blood cells, as well as a set of other indicators that point to cystinosis. We may also confirm the diagnosis with genetic testing. Because cystinosis can also affect the eyes, your child’s doctor sometimes recommends an eye exam or consultation with other pediatric subspecialties such as endocrinology, cardiology, gastroenterology or neurology.

Why choose us for cystinosis testing and diagnosis?

Our Kidney Care Center team is experienced in diagnosing and managing cystinosis. Using state-of-the-art technology and equipment designed specifically for children, we can provide a quick, accurate diagnosis.

How do we treat cystinosis?

Cystinosis treatment involves the use of a cystine-binding agent that is taken twice daily by mouth, as well as the application of eyedrops throughout the day. Because the kidneys are frequently affected in children with cystinosis, we typically prescribe oral medications and supplements to replace substances that are lost in the urine as a result of kidney damage.

These substances include phosphorus, potassium and buffer, which is a solution that helps neutralize small amounts of acid or base, helping to maintain a relatively stable pH level in the body. Treatment may also involve referrals to other pediatric subspecialties to address possible thyroid, bone, muscle, learning or heart issues.

While we can treat your child to help lessen the negative effects of cystinosis, we cannot prevent the condition from continuing to damage the kidneys. As cystinosis progressively damages the kidneys, dialysis or kidney transplantation may also be needed.

Why choose us for cystinosis treatment?

If cystinosis becomes bad enough to cause irreversible kidney failure (end-stage renal disease or ESRD), we offer the region’s only pediatric dialysis and kidney transplant programs.

Cystinosis treatment is highly specialized and often complex. Because the condition can affect other organs as well, we utilize a multidisciplinary team to treat all complications of the disease. By looking at all aspects of the condition, we can develop a comprehensive treatment plan to address all affected systems within the body.

Helpful resources

• The Cystinosis Research Foundation (CRF) is dedicated to finding better treatments to improve quality of life for those with cystinosis and to ultimately find a cure for the disease.
• The National Kidney Foundation (NKF) strives to enhance the lives of those affected by kidney disease through action, education and accelerating change.