Genetic Link in Kidney Stones Identified

Kidney stones may have a possible genetic link, according to a recent study published in the Journal of The American Society of Nephrology.

These findings could assist patients kidney stones in acquiring a more specific diagnosis and treatment, as well as allow early screening and treatment for family members.

Researchers from Harvard and Newcastle Universities led by John Sayer, MD, looked at 272 patients with kidney stones and found genetic mutations in 15% of these cases, which they note as much higher than previously believed.

“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,” Dr. Sayer said. “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.”

Kidney stones, usually a few millimeters wide, may cause extreme pain and long-term kidney damage.

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.

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