Kinkini Gupta
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TULP3-related ciliopathy: A Genetic Condition Discovered In Children And Adults
Scientists at Newcastle University in the United Kingdom have discovered an 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.
TULP3-related ciliopathy, a new disease discovered by scientists is a condition prevalent in people with already existing liver and kidney failures. Experts have termed this as a genetic condition which could help them detect the underlying reasons of kidney or liver failure. A research published in the American Journal of Human Genetics states that a faulty gene is the catalyst for increased fibrosis in the liver and kidney, which could lead to urgent organ transplantation. This study found numerous patients with this new condition, especially among those who were already suffering from liver and kidney related problems.
Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle stated, "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." The researchers have said that they 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.
Acute liver failure is loss of liver function that occurs rapidly in days or weeks usually in a person who has no preexisting liver disease. It's most commonly caused by a hepatitis virus or drugs, such as acetaminophen. Acute liver failure is less common than chronic liver failure, which develops more slowly.
Look out for these symptoms!
Hepatorenal syndrome occurs when the kidneys stop working well in people with serious liver problems. Less urine is expelled from the body, so waste products that contain nitrogen build up in the bloodstream (azotemia). The disorder occurs in up to 1 in 10 people who are in the hospital with liver failure. It leads to kidney failure in people with:
Here are a few symptoms to look out for -
(With inputs from Agencies)