Cystine Kidney Stones Genetic. Three types of genetic mutations can lead to cystinuria. Cystine stones are caused by a rare disorder called cystinuria the disorder causes a natural substance called cystine to leak into your urine.
Cystinuria inhibits the reabsorption of the amino acid cysteine which leads to the formation of kidney stones. Factors that increase your risk of developing kidney stones include. Males generally are more severely affected than females.
The article that says that a common genetic variation in a gene called claudin 14 has been linked to a substantial increase of around 65 in the formation of the stones.
When the cystine concentration of urine builds up cystine stones form. These cystine stones cause a lot of pain when they block portions of the interior of the kidney or the ureter that connects the kidney to the urinary bladder. Cystine kidney stones are due to cystinuria an inherited genetic disorder of the transport of an amino acid a building block of protein called cystine that results in an excess of cystine in the urine cystinuria and the formation of cystine stones. Cystine stones also cause blood in the urine whenever the urinary tract is blocked urinary tract infections as well as kidney failure.