A New Disease Explains the Unexplained
Have you ever heard of someone suffering from serious kidney or liver issues, and doctors can’t figure out why? For those people, a new discovery might be the answer they’ve been searching for.
Scientists at Newcastle University have identified a new inherited condition that causes liver and kidney failure. They’ve named it TULP3-related ciliopathy.
This is a huge step forward for both doctors and patients because, in many cases, people suffering from liver or kidney failure don’t get a clear diagnosis. This makes it hard to find the best way to treat them.
How They Found Out: It’s All in the Genes
What did the scientists do to figure this out? Well, they took a deep dive into the genes of patients who had liver or kidney problems.
What they found was that a specific gene isn’t working the way it should be. This faulty gene leads to more scarring in the liver and kidneys, which can often make a transplant necessary.
Professor John Sayer, who led the study, said this discovery could make a big difference for many patients.
He explained, “What we are now able to do is give some patients a precise diagnosis, which lets us customize their treatment for the best possible result.”
The researchers didn’t just look at one or two cases. They went through the symptoms, genetic makeup, and even liver tissue samples from many patients. They found that 15 patients from eight families had this new disease.
They grew cells from urine samples from these patients in a lab to learn even more about what goes wrong in TULP3-related ciliopathy.
Over half of these patients had to get a liver or kidney transplant because their condition got really bad. And before this study, no one knew why.
Why This Matters: A Light at the End of the Tunnel
Professor Sayer said the more they can learn about this new disease, the more people they can help. “We hope to provide a proper diagnosis for many more families in the future,” he said.
Knowing the genetic reason for someone’s liver or kidney failure could even help their family members, especially if they want to donate a kidney to help out.
The team at Newcastle is not stopping here. They’re going to keep studying this disease to figure out more about how it works and to test possible treatments.
Real People, Real Impact
Meet Linda Turnbull. She’s in her 60s and has lived with a failing liver since she was just 11 years old. She even had to get a liver transplant back in 1994.
Recently, she also found out her kidneys were failing. Linda was one of the patients in this study. She said, “It’s brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition.”
The best part? This discovery didn’t just happen in a lab far removed from real people’s problems. Linda and others like her are already benefiting from it.
Her involvement in the study helps researchers understand this new disease better, which will help more people get the right treatment in the future.
Linda has also helped start a support group for liver patients and continues to work as a governor for the charity, Liver North.
Thanks to research like this, more people may finally get answers and treatments that can truly help them.
If you care about kidney health, please read studies about how to protect your kidneys from diabetes, and drinking coffee could help reduce the risk of kidney injury.
For more information about kidney health, please see recent studies about foods that may prevent the recurrence of kidney stones, and eating nuts linked to a lower risk of chronic kidney disease and death.
The study was published in The American Journal of Human Genetics.
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