Genetic Heritability For Kidney Stones

For Patients

If you suspect you have stones, visit your primary care provider or urologist.

If you've been diagnosed with stones and would like to be seen in the Metabolic Stone Clinic, please call (608) 263-4757.

Approximately 40 percent of people who form kidney stones have a positive family history for stones. People with this inherited trait often begin forming stones early in life. 
  • Hypercalciuria (the presence of excessive amounts of calcium in the urine) may be caused by defects in various genes, which can be passed on to family members and can cause stones. These diseases, which are extremely rare, promote calcium stones and other problems. They include:
    • Hereditary distal renal tubular acidosis
    • Dent disease
    • Bartter syndrome types III and IV
    • Autosomal dominant hypocalcemic hypercalciuria
    • Familial hypomagnesemia
  • Hypocitraturia (too little citrate in the urine) also appears to have a genetic basis, although it may be completely related to diet and other environmental factors. Citrate is a potent inhibitor of kidney stones.
  • Primary hyperoxaluria (type I and type II) is caused by a defect in liver enzyme originating from a gene mutation passed on genetically. This mutation results in the production of high amounts of oxalate in the body. Oxalate must be excreted via the urine and when too much oxalate is present in urine, calcium oxalate stones form. Type I primary hyperoxaluria is treated by a combined liver and kidney transplant. Type II is milder and does not usually cause kidney failure.
  • Cystinuria is a rare inherited disease that results in the formation of stones made of an amino acid called cystine. The known gene defects responsible for cystinuria affect the kidneys and cause the kidneys to improperly excrete too much cystine into the urine. When the cystine concentration of urine builds up, cystine stones form.