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Kidney and liver failure may be genetic and result from a malfunction of an enzyme and the so-called cilia, researchers from Newcastle University noted. This discovery could help in the treatment of many patients whose disease was as yet unexplained and the only salvation was a transplant.
- A British team of scientists has discovered that both kidney and liver damage can be caused by a defect in a gene for one enzyme called TULP3
- The authors of the study looked at cases of liver or kidney failure that occurred in members of the same families
- – Our discovery is of enormous importance for better diagnosis and treatment of kidney and liver diseases in some patients. We are now able to present some of them with a precise diagnosis, which allows us to select the best treatment for them, say the authors of the study
- You can find more up-to-date information on the TvoiLokony home page
Kidney and liver damage: a cause that’s written in the genes
There are many reasons for severe kidney or liver failure, but patients often don’t get an accurate diagnosis, say researchers at Newcastle University. This state of affairs naturally influences the treatment of patients who, often, ultimately require a transplant.
A British team found that both kidney and liver damage can be caused by a defect in a gene for one enzyme called TULP3.
«Our discovery is of enormous importance for better diagnosis and treatment of kidney and liver diseases in some patients. We are now able to present some of them with a precise diagnosis, which allows us to select the best treatment for them »- says prof. John Sayer, author of an achievement described in the American Journal of Human Genetics.
Kidney and liver failure: many members of the same family suffered from the disease
His team analyzed the clinical symptoms, liver biopsy, and genetic tests. In the studied group of patients, 15 people from 8 families were diagnosed with a disease called TULP-3-dependent ciliary ciliary disease. More than half of these patients have already undergone a liver or kidney transplant, but until now the cause of progressive organ damage has remained a mystery.
«We were surprised at how many patients we found TULP-3-dependent ciliary disease. This would suggest that the condition is common in people with liver and kidney failure. We hope to be able to make a proper diagnosis for more families in the future. This work reminds us that it is always worth investigating the underlying causes of kidney and liver failure in order to get to know the problem in detail »- says Prof. Sayer.
When was the last time you checked your liver’s condition? Make a Liver Package – diagnostic tests and show the results to your doctor. Don’t be surprised by the disease.
“Finding the genetic cause of liver or kidney failure also has important implications for other family members, especially if they want to donate a kidney for transplant” – noted the expert.
Scientists also presented selected cases of patients. One of them was 60-year-old Linda Turnbull, who leads a full and fulfilling life, but thanks to transplantation. Already as a child, she was in poor health, and at the age of 11, when she began vomiting blood, she was diagnosed with this organ failure. The treatment had some results, but in 1994 she had to undergo liver transplant surgery. «It is wonderful to finally have answers to the questions that are asked throughout my life: why has this happened to me and why do I have a bad liver?» – says the patient.
Scientists are now starting to work on cell lines to better understand the disease and test new therapies.