Scientists have identified a new liver and kidney disease
Researchers have identified this genetic condition, called TULP3-linked ciliopathy that causes kidney and liver failure in children and adults
Scientists have discovered a new disease in breakthroughs that could help patients with unexplained liver and kidney problems.
Researchers at the University of Newcastle in the United Kingdom have discovered this genetic disorder called TULP3-linked ciliopathy that causes liver and kidney failure in both children and adults.
There are many causes of organ and liver failure, which if left untreated are life-threatening, but patients often don’t receive an accurate diagnosis which can make the best course of their treatment unclear.
According to a study published in the American Journal of Human Genetics , faulty genes are responsible for liver and kidney inflammation, often requiring replacement.
“Our finding has significant implications for the diagnosis and appropriate management of liver and kidney disease in some patients,” said Professor John Sayer, deputy clinical director at Newcastle.
“What we can now do is give some patients a more accurate diagnosis, which allows their care to be tailored to their needs for better outcomes,” added Sayer.
In the study, researchers analyzed symptoms, took liver biopsies and genetic sequences from several patients, and 15 patients from eight families were diagnosed with the new disease.
Urine samples from these patients were used to culture the cells in the laboratory and then investigated to determine the specific defect causing TULP3-related ciliopathy.
More than half of the patients on this study underwent kidney or liver transplantation due to severe damage.
In these patients, the cause of the initial organ failure was not known until the study.
“We were surprised at how many patients we could identify with TULP3-related ciliopathy and this would indicate that the disease is particularly prevalent in patients with liver and kidney failure,” Professor Sayer said.
“We hope to give many more families a better diagnosis in the future. This work is a reminder that it is always important to identify the underlying causes of renal or hepatic failure.
“Finding out the genes that cause liver or kidney failure has a big impact on other family members, especially if they want to donate a kidney to a patient.” The team will now work with cell lines obtained from patients to study the disease mechanisms in greater detail and to test potential treatments for TULP3 disease. CHILDREN OF IANS
Researchers have identified this genetic condition, called TULP3-linked ciliopathy that causes kidney and liver failure in children and adults Scientists have discovered a new disease in breakthroughs that could help patients with unexplained liver and kidney problems. Researchers at the University of Newcastle in the United Kingdom have discovered this genetic disorder called TULP3-linked ciliopathy that causes liver and kidney failure in both children and adults. There are many causes of organ and liver failure, which if left untreated are life-threatening, but patients often do not receive an accurate diagnosis which can make the best course of their treatment unclear. According to a study published in the American Journal of Human Genetics , faulty genes are responsible for liver and kidney inflammation, often requiring replacement."Our finding has significant implications for the diagnosis and appropriate management of liver and kidney disease in some patients," said Professor John Sayer, deputy clinical director at Newcastle."What we can now do is give some patients a more accurate diagnosis, which allows their care to be tailored to their needs for better outcomes," added Sayer. In the study, researchers analyzed symptoms, took liver biopsies and genetic sequences from several patients, and 15 patients from eight families were diagnosed with the new disease. Urine samples from these patients were used to culture the cells in the laboratory and then investigated to determine the specific defect causing TULP3-related ciliopathy. More than half of the patients on this study underwent kidney or liver transplantation due to severe damage. In these patients, the cause of the initial organ failure was not known until the study."We were surprised at how many patients we could identify with TULP3-related ciliopathy and this would indicate that the disease is particularly prevalent in patients with liver and kidney failure," Professor Sayer said."We hope to give many more families a better diagnosis in the future. This work is a reminder that it is always important to identify the underlying causes of renal or hepatic failure."Finding out the genes that cause liver or kidney failure has a big impact on other family members, especially if they want to donate a kidney to a patient". The team will now work with cell lines obtained from patients to study the disease mechanisms in greater detail and to test potential treatments for TULP3 disease.
Researchers at the University of Newcastle in the United Kingdom have discovered this genetic disorder called TULP3-linked ciliopathy that causes liver and kidney failure in both children and adults.Researchers Researchers have identified this genetic condition, called TULP3-linked ciliopathy that causes kidney and liver failure in children and adults Scientists have discovered a new disease in breakthroughs that could help patients with unexplained liver and kidney problems. The team will now work with cell lines obtained from patients to study the disease mechanisms in greater detail and to test potential treatments for TULP3 disease. More than half of the patients on this study underwent kidney or liver transplantation due to severe damage.
