A recent breakthrough in new research has identified a genetic link to kidney stones that could help patients with kidney stones receive an accurate diagnosis and specific treatment. Scholars from Newcastle University and Harvard University in the UK found that many cases of kidney stones have a genetic cause, meaning that patients can be given specific treatment at an early stage and that other family members can be screened for the disease. Kidney stones are a serious disease that affects one in ten of the UK population. Kidney stones are formed when minerals in the urine collect together and form lumps of hard material. They are usually a few millimeters wide and can impair kidney function, leading to serious infections and blockage of kidney blood vessels. They can cause extreme pain as well as long-term damage to the kidneys. The new study, done by John Sayer and his research team, has just been published in the Journal of The American Society of Nephrology (latest impact factor 9.466 in 2014). The group studied the genes of 272 patients and found that specific gene mutations were present in 15% of cases, a much higher number than previously thought. These results will allow physicians to more effectively manage and treat patients with kidney stones. It was previously thought that about 1 percent of kidney stone cases were caused by a genetic disorder,” Dr. Sayer said. But the results of this study suggest that the genetic cause of stones is much higher, and that most cases are linked to our DNA. This means that we can identify patients and family members who are at risk for developing stones and hopefully intervene to stop this painful, serious disease.” ”Almost everyone who has kidney stones will have another attack of kidney stones. Current treatment options include medications and surgical options. Based on this study, our goal now is to guide treatment based on the exact cause of the disease to avoid stone recurrence, which often requires multiple surgeries.” Kidney damage Simon Moore, 38, of Walkington, West Cumbria, England, has suffered from kidney stones for more than 20 years, caused by a condition called cystinuria. His condition was severe enough that he had to undergo several surgeries, which further damaged his kidneys. They started when I was 16 years old,” he says. Every morning at 6 a.m. I would wake up with severe pain. I went to the doctor and he said it could be a kidney stone, so I had an X-ray done and it was confirmed that there was indeed a blockage.” ”The blockage was in my left kidney and it was about the size of my thumb, which meant I had to be hospitalized for two months. In the end, I had to undergo quite major surgery. Both kidneys were affected.” ”In my case, the disease is hereditary, but no one in my family has ever had it. It’s really hard to describe how terrible the pain is. You feel unreal.” ”I have a lot of kidney damage. I’ve had almost 50 surgeries because the stones keep coming back. Drinking lots of water does help, but it only slows the process down. Anything that can help stop this disease would be amazing. The charity, the International Cystinuria Foundation, has incredibly helped me through the tough times.”