Reviewed January 2009
What is cystinuria?
Cystinuria is a condition characterized by the buildup of cystine crystals or stones in the kidneys and bladder. Cystine is an amino acid, one of the building blocks of proteins. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream and the amino acid accumulates in their urine.
As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. As these crystals become larger, they form stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form larger stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.
How common is cystinuria?
Cystinuria affects approximately 1 in 10,000 people.
What genes are related to cystinuria?
Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a transporter protein complex that is made primarily in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the transporter protein complex to reabsorb amino acids, which causes them to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the transporter protein complex do not create crystals when they accumulate in the urine.
Read more about the SLC3A1 and SLC7A9 genes.
How do people inherit cystinuria?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about treatment for cystinuria?
These resources address the management of cystinuria and may include treatment providers.
You might also find information on treatment of cystinuria in
Educational resources and Patient support.
Where can I find additional information about cystinuria?
You may find the following resources about cystinuria helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for cystinuria?
What if I still have specific questions about cystinuria?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding cystinuria?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.