Discovery of new kidney and liver disease could save people from transplants

There are numerous reasons for kidney and liver failure, which if left untreated are ­life-threatening. And often ­patients don’t get a precise diagnosis, which can result in their best course of treatment being unclear.

But experts at Newcastle University have now identified a new disease in a ground-breaking discovery that could help patients with unexplained liver and kidney problems.

They’ve established the inherited condition TULP3-related ciliopathy (TRC), which causes kidney and liver failure in children and adults.

Research has revealed that a faulty gene is the catalyst for increased fibrosis (scarring) in the liver and kidney, often resulting in the need for a transplant.

Professor John Sayer of Newcastle University said: “Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients.

“What we are now able to do is give some patients a precise diagnosis, which allows their treatment to be tailored to their needs for the best possible outcome.”

In the study, experts collated ­symptoms, liver biopsies and genetic sequencing from many patients, and a total of 15 patients from eight ­families were identified as having this new disease.

Urine samples from these patients were used to grow cells in a laboratory and then these were investigated to determine the precise defect causing TRC. More than half the patients in the study had a liver or kidney transplant as their condition had deteriorated significantly. In these patients the original cause for their organ failure was unknown until the study.

Professor Sayer added: “We were surprised at how many patients we were able to identify with TULP3-related ciliopathy, and this would suggest that the condition is prevalent within those suffering with liver and kidney failure.

“Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient.”

The work, co-funded by Kidney Research UK and the Northern ­Counties Kidney Research Fund, was made possible through the Genomics England 100,000 Genomes project, and Professor Sayer has been ­instrumental in its local success.

The Newcastle experts will now work with cell lines taken from patients to study in detail the disease process and to test potential ­treatments for TRC.

Great news.