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.