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Gene mutation found causing kidney stones

Mutations in a gene was found to be the culprit of kidney stone formation

Research teams of Drs. Min Goo Lee and Heon Yung Gee in the Department of Pharmacology at the Yonsei University College of Medicine in collaboration with Dr. Hildebrandt in the Boston Children’s Hospital at Harvard University found mutations in a gene called SLC26A1 to be the culprit of kidney stone formation. The research results were released in the June 2016 issue of the American Journal of Human Genetics. Kidney stones form when minerals in urine are hardened like stones in the kidney and urinary tract. When kidney stones are present, the symptoms are severe pain in the back and sides and bloody urine (hematuria). It is also accompanied by a number of complications, such as painful urination (dysuria), difficulty in holding urine, or more frequent urination. Thus far, approximately 30 genes that trigger kidney stones have been discovered, but these genes only account for 15-20% of kidney stone patients. Causes for the remaining patients is still unclear. The Boston Children’s Hospital and Dr. Gee research team analyzed the genetic makeup of blood samples from 348 registered kidney stone patients consisting of 147 adults and 201 children. They found that kidney stones formed when autosomal recessive mutations occurred in the SLC26A1 gene. Dr. Lee explained, “Kidney stones occur in about 5-20% of the population,” and “although there can be various causes like inadequate water intake or obesity, the family history and frequent recurrence rate suggest that genetic factors can also contribute the disease.” In addition, the research teams pointed out that for individuals with SLC26A1 mutations, the use of acetaminophen, a common fever-reducing pain reliever, can cause a loss of appetite and in severe cases can lead to liver damage, such as hepatitis or even liver failure. Dr. Gee said that acetaminophen is widely used by adults as well as children who show symptoms of fever and recommended that kidney stone patients should consult a doctor and exercise caution when taking medication.

Updated in Feb 2017

Reference Gee, H. Y., Jun, I., Braun, D. A., Lawson, J. A., Halbritter, J., Shril, S., Nelson, C. P., Tan, W., Stein, D., Wassner, A. J., Ferguson, M. A., Gucev, Z., Sayer, J. A., Milosevic, D., Baum, M., Tasic, V., Lee, M. G., Hildebrandt, F., “Mutations in SLC26A1 Cause Nephrolithiasis” American Journal of Human Genetics, doi: 10.1016/j.ajhg.2016.03.026