Cystinuria is an important hereditary cause of kidney stones and kidney failure. Most patients affected by this autosomal recessive disease have mutations in one of two known genes, each of which codes for one component of the heterodimeric transport protein expressed in kidneys that reabsorbs the amino acid cystine.
Patients often have large, recurrent stones composed of cystine. The disorder may result in chronic kidney disease. Cystinuria is responsible for approximately 1 percent of all kidney stones. It is a rare disease, affecting about 1 in 15,000 people in the United States. Approximately 1 in every 170 people are heterozygote carriers.
Our Cystinuria Registry, established in 2010 by principal investigator David S. Goldfarb, MD, is part of the largest-ever longitudinal clinical study designed to determine the risk factors for chronic kidney disease and stone recurrence in people with the condition. Through this study, we seek to answer questions about cystinuria including the following:
- Other than genotype, what factors—age, gender, diet, and medications—affect stone formation?
- What risk factors account for the increased risk of chronic kidney disease in cystinuria?
- In which patients is treatment with cystine-binding thiol drugs most clinically effective?
Join the Cystinuria Registry
After a patient joins the Cystinuria Registry, we collect information about their condition each year. The data in the registry help us gain a better understanding of the condition, which in turn may help us develop better treatment protocols.
We have worked closely with our patient advocacy group, the International Cystinuria Foundation, to support, develop, and promote the registry and research on cystinuria.