London, May 29: Scientists have identified a new disease in a ground-breaking discovery that could help patients with unexplained liver and kidney problems.
There are numerous reasons for kidney and liver organ failure, which if left untreated is life-threatening, but often patients do not get a precise diagnosis which can make their best course of treatment unclear.
Research, published in the American Journal of Human Genetics, has revealed that a faulty gene is the catalyst for increased fibrosis in the liver and kidney, often resulting in the need for a transplant.
“Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients,” said Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle.
In the study, experts reviewed clinical symptoms, took liver biopsies and genetic sequencing from scores of patients, where 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 investigated to determine the precise defect causing TULP3-related ciliopathy.
Over 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.
“We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition.
“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 team will now work with cell lines taken from patients to study more in detail the disease process and to test potential treatments for TULP3-related ciliopathy.