Genetic Testing for Urinary Tract Stones

Genetics can play an important role in kidney stone disease. Around 35 to 40 percent of people who form kidney stones have family members who also had stones. People who inherit this trait often begin forming stones early in life and tend to have repeated episodes.

Our geneticist may order blood tests to determine whether your child or your child’s biological family has a genetic predisposition for stone development.

The genetics of kidney stone formation is complex and we are continually learning more about this disease in children.

Examples of conditions with a genetic basis include:

• Hypercalciuria, which may be caused by defects in a number of genes. Elevated urine calcium increases the likelihood of stone formation.
• Hypocitraturia (too little citrate in the urine) may also have a genetic basis. Citrate prevents kidney stones, so not having enough may increase risk for stone development.
• Primary Hyperoxaluria results from a liver enzyme defect causing the production of large amounts of the chemical oxalate, which can lead to calcium stone formation.
• Cystinuria is an inherited disease in which the kidney excretes too much of the amino acid cystine into the urine, resulting in the formation of cystine stones.