Tag : Explained

Washington: In a ground-breaking discovery that could help patients with unexplained liver and kidney problems, scientists have identified a new disease. Experts at Newcastle University, UK, have established the inherited condition, called TULP3-related ciliopathy that causes kidney and liver failure in children and adults. 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. Faulty gene the catalyst 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. Professor John Sayer, Deputy Dean of Clinical Medicine at 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 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. Professor Sayer, who is a consultant ...