A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.

Academics from Newcastle and Harvard universities have found that many cases of kidney stones have a genetic cause – meaning that specific early treatments can be given and other family members can be screened for the disease.

Kidney stones are a serious condition which affects one in ten people in the UK. Kidney stones are formed when minerals in the urine collect together to form blocks of hard material. They are usually a few millimetres wide and impair the function of the kidney, lead to serious infections and blockages of the kidney.

They can cause extreme pain as well as long term damage to the kidneys. The new study, by Dr John Sayer and his team, has just been published in Journal of The American Society of Nephrology.  The team studied the genes of 272 patients and found specific genetic mutations in 15% of cases, a number far higher than was previously thought.

These findings will enable doctors to manage and treat some patients with kidney stones more effectively.

Dr Sayer said: “Previously it was thought that about 1% of kidney stone cases were caused by genetic disease. But this study shows that genetic causes of stones are far higher and a significant proportion of cases are related to our DNA. That means we can identify patients and family members who are at risk of developing stones and hopefully intervene to prevent this very painful and serious condition.

“Nearly everyone who suffers from kidney stones will have further episodes of kidney stones. Current treatments include medical and surgical options. In light of this research we now aim to direct medical treatment at the precise cause of the condition to avoid recurrent stones and the multiple surgical procedures which are often needed.”

Date: October 29, 2014

Source: Newcastle University