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Pediatric Cystinuria (Inherited Kidney Stone Disorder)

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Summary

Cystinuria is a condition that causes cystine stones to form in the bladder, kidneys or ureter (tube that passes urine from kidney to bladder). 

Expanded overview

Cystinuria is a condition that causes the amino acid cystine to build up in your child’s kidneys. When the cystine builds up, it may form bladder stoneskidney and ureteral stones. If your child has cystinuria, they may have stones form over and over, even after treatment. Children who have cystinuria need to drink plenty of water to help flush out the cysteine and avoid stones forming.

Causes

Cystinuria is caused by an inherited gene defect that affects the way the amino acid cystine is filtered and transported from the kidneys. When cystine is not transported through the cells of the kidneys, it builds up and can form into stones.

Risk factors

Your child is only at risk for cystinuria if both parents carry the gene defect for cystinuria.

Symptoms

There are no direct symptoms of cystinuria, however, when cystine stones form, your child’s symptoms may include:

Resources

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