Research uncovers genetic changes linked to developing kidney stones
In a Professor Sarah Howles and her team at the University of Oxford, with funding from Kidney Research UK, have discovered DNA changes that likely control people’s calcium and phosphate levels and cause kidney stones. Treating patients with existing drugs and supplements that affect calcium and phosphate levels could reduce the risk of stones forming by up to 90%.
What are kidney stones?
Kidney stones are a common condition affecting around one in ten people. Hard ‘stones’ made of minerals and salts form in the kidneys.
They can often be tiny, but if they get too big, or if they move into the tubes connecting the kidney to the bladder, they can cause severe pain and can lead to further health problems.
Although many people only get one kidney stone in their lifetime, around half of patients who develop a kidney stone will develop more in the future.
X-ray showing stones in the kidney system (the partially opaque dots either side of the spine)
What causes kidney stones?
There are several causes of kidney stones and certain genetic and environmental causes make stone formation more likely. One important risk factor for kidney stones is high calcium levels in the urine. Higher levels of calcium and lower levels of phosphate in the blood both increase the amount of calcium in the urine and the risk of kidney stones.
Uncovering the genetics of kidney stones
Sarah and the team looked at the DNA of over 11,000 people from the UK Biobank and 8,500 individuals from the FinnGen study with kidney stones.
From this they identified changes near to three genes (sections of DNA) that are likely to cause kidney stones.
All three changes were linked to higher levels of calcium, and two were linked to lower levels of phosphate, in the blood. The team were able to estimate that around 11-19% of all cases of kidney stones are due to one of these changes.
Treatments to prevent kidney stones
By pinpointing the specific calcium and phosphate pathways affected by genetic changes in kidney stone patients, the team found several existing drugs and supplements that target these pathways to lower calcium and increase phosphate levels in the blood, potentially decreasing the risk of stones.
Professor Sarah Howles
A personalised approach to treat kidney stones
This research could enable future tests that allow a personalised approach to kidney stones by using medications that target genetic changes.
“We are the first group to use this technique to research the genetics of kidney stones. By identifying these three changes in genes that increase the risk of kidney stones we think that it may be possible in the future to use this information, alongside other risk factors, to provide more personalised treatments for patients with kidney stones. For example, we may be able to use medicines to target a specific pathway that is causing kidney stones in a patient to reduce their risk of forming more stones.” Professor Sarah Howles
Elaine Davies, director of research operations at Kidney Research UK commented:
“We recognise the impact of kidney stones for patients. They can be very painful and lead to other health problems including damage to the kidneys.
“This research into understanding the genetics underlying a patient’s risk of forming kidney stones could mean with further research targeted interventions could be made for individual patients to reduce their risk of forming stones, protecting them from developing this common condition.”
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