Scientists from Newcastle University found a new disease in a ground-breaking discovery that could help patients with unexplained liver and kidney problems.
They established the inherited condition, called TULP3-related ciliopathy that causes kidney and liver failure in children and adults.
The research is published in the American Journal of Human Genetics and was conducted by Professor John Sayer et al.
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.
In the study, the team found that a faulty gene is a catalyst for increased fibrosis in the liver and kidney, often resulting in the need for a transplant.
They reviewed clinical symptoms and 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.
The researchers 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 with liver and kidney failure.
They hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth checking 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.
If you care about kidney health, please read studies about vegetables that could protect against kidney damage in diabetes, and weight change may harm people with kidney disease.
For more information about health, please see recent studies about heartburn drugs that may cause gradual yet ‘silent’ kidney damage, and results showing that many people need this simple test to detect chronic kidney disease.
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