Improving treatments for cystinuria
Professor Richard Coward from the University of Bristol has received a Kidney Research UK research project grant of £230,000 to look at developing drugs that target the transportation pathway of cystine in kidney cells involved in cystinuria.
The problem with cystinuria causing kidney stones
Cystinuria is a rare inherited disease which causes repeated development of kidney stones over an individual’s lifetime. Kidney stone formation can be painful and debilitating for patients and lead to renal failure. There is no cure for cystinuria, current treatments have serious side effects for patients, and most still need surgical procedures to break up or remove the stones.
Most commonly, cystinuria is caused by changes in genes (known as mutations) involved in transporting and removing a substance called cystine from the urine in specialised structures in the kidney called the tubules. The mutations mean the ‘cystine channel’ cannot reach the surface of the cell to transport the cystine, leaving higher concentrations in the urine which can form stones.
The solution to prevent kidney stones
Richard and his colleagues will use kidney cells with mutations in the same genes involved in cystinuria attached to fluorescent proteins, meaning the location of the cystine channels can be seen under a special type of microscope. Different drugs will be tested on these cells to identify any which can move the cystine ‘channel’ to the surface of the cell. A model will then be used to see if these drugs prevent stone formation.
Meet the researcher: Professor Richard Coward
“Cystinuria is a highly debilitating disease that causes multiple kidney stones to form over a lifetime. Unfortunately, current treatments are not hugely effective and have several debilitating side effects.
"We hope that we will be able to identify new effective treatments to help prevent stones forming, improving patients’ quality of life and preventing some of them developing kidney failure.”
What could this mean for kidney patients?
By identifying new drugs which move mutated cystine channels to the membrane of kidney cells, Richard and his team hope to bring more effective and kinder treatments which prevent stone formation to patients with cystinuria.
Dan Skinner was diagnosed at just two years old with cystinuria
“I’ve had many kidney stones and have regular ultrasounds to identify which need treatment and which will pass naturally. Most months I pass a couple of stones measuring 2-3mm but the biggest was around 11mm. At their worst, I have felt like passing out because of the pain. I’ve had four keyhole surgeries and eight ureteroscopies. The more stones and interventions I have, the more likely it is that damage is done to my kidneys.
“The biggest impact for me though, is the steps I have to take every day to try and reduce the formation of stones in my kidneys. There is no cure for my condition. I take medication and have to drink six litres of fluid a day, including during the night, to reduce the concentration of cystine in my urine.”
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