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3 weeks ago | 
liverdiseasenews.com | Marisa Wexler |Katherine Poinsatte |Sophie Bourton |Lindsey Shapiro
Analyzing the presence of different proteins in liver tissue under a microscope can be used to help diagnose progressive familial intrahepatic cholestasis (PFIC) and distinguish between its different types, according to a study done in India. The findings indicate that this type of relatively cheap and accessible analysis, called immunohistochemistry, could be used to aid in identifying and discriminating PFIC types when standard — but more expensive — genetic testing isn’t an option.
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1 month ago | 
liverdiseasenews.com | Marisa Wexler |Steve Bryson |Sophie Bourton |Margarida Maia
A new mutation in the ABCB4 gene was found to cause progressive familial intrahepatic cholestasis (PFIC) type 3 in a young woman, a case study shows. The woman responded well to treatment with ursodeoxycholic acid (UDCA), which isn’t always effective in people with this type of PFIC. The study’s researchers suggested that differences between disease-causing ABCB4 mutations may influence how the disease responds to cholestasis treatment.
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1 month ago | 
liverdiseasenews.com | Steve Bryson |Margarida Maia |Sophie Bourton
Researchers have developed a tool that can distinguish medications that result in cholestasis from those that don’t, based on their effects on key bile acid clearance processes. Cholestasis occurs when the flow of the digestive fluid bile from the liver to the intestines slows or stops. Bile acids are the main components of bile.
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1 month ago | 
liverdiseasenews.com | Steve Bryson |Andrea Lobo |Marisa Wexler |Sophie Bourton
Researchers in China have identified six new mutations in the JAG1 and NOTCH2 genes as likely causes of Alagille syndrome. In their study, six of 14 children with Alagille were each found to carry one of these mutations, with each child identified as having a different one. The other eight children were found to have previously identified mutations.
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1 month ago | 
liverdiseasenews.com | Margarida Maia |Sophie Bourton |Marisa Wexler
A specific variant in the ABCB4 gene does not cause intrahepatic cholestasis of pregnancy (ICP) on its own, but it may increase the disease’s risk and severity when combined with other ABCB4 variants, according to a small study in China. While this mutation “was found in both ICP patients and healthy pregnant women,” those who developed ICP also carried other ABCB4 variants that were “not found in healthy pregnant women,” the researchers wrote.
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2 months ago | 
liverdiseasenews.com | Steve Bryson |Sophie Bourton |Lindsey Shapiro |Marisa Wexler
A second liver transplant results in transplant and patient outcomes in people with primary sclerosing cholangitis (PSC) that are comparable or better than those observed in people with other liver diseases, a study showed. Transplanted liver (graft) and patient survival were significantly better in PSC patients than in those with non-PSC conditions.
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Jan 7, 2025 | 
liverdiseasenews.com | Andrea Lobo |Marisa Wexler |Katherine Poinsatte |Sophie Bourton
A combination of two new mutations in the TJP2 gene was identified as the cause of a mild form of progressive familial intrahepatic cholestasis type 4 (PFIC4) in a 12-year-old girl, scientists in India reported. The girl responded well to standard treatment with ursodeoxycholic acid (UDCA), showing a normalization of blood markers of liver damage and a gradual reduction in symptoms, which were completely resolved after six months.
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Nov 5, 2024 | 
liverdiseasenews.com | Marisa Wexler |Sophie Bourton |Andrea Lobo |Katherine Poinsatte
Progressive familial intrahepatic cholestasis (PFIC) caused by mutations in the USP53 gene results in a fairly mild form of the disease, with most of PFIC patients carrying mutations in the gene not needing liver transplants, according to a study in India. “USP53 mutations were the fifth most common genetic variant of PFIC in India and usually led to mild to moderate disease, although one sixth of them progressed to end-stage liver disease requiring [liver transplant],” the researchers wrote.
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Nov 1, 2024 | 
liverdiseasenews.com | Margarida Maia |Lindsey Shapiro |Sophie Bourton
Software tools may help predict whether certain hard-to-interpret mutations in the JAG1 gene affect splicing, a process that can direct how a protein is produced, a study shows. The tools, along with additional functional tests, let the researchers identify seven splicing-disturbing JAG1 mutations that hadn’t been previously confirmed. JAG1 is the gene most commonly mutated in Alagille syndrome.
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Oct 1, 2024 | 
liverdiseasenews.com | Patricia Inacio |Steve Bryson |Lindsey Shapiro |Sophie Bourton
Biliary diversion surgery — which can be used in patients with bile duct problems — successfully reduced markers of liver damage, lessened itching, and improved growth in a 6-month-old boy with progressive familial intrahepatic cholestasis type 4 (PFIC4), a case study showed. The infant had been unresponsive to standard treatment.
