Study: New ABCB4 mutations tied to different ages of PFIC3 onset
Two cases of progressive familial intrahepatic cholestasis type 3 (PFIC3) with markedly different ages of disease onset due to new mutations in the ABCB4…
Cholestasis
Biomarkers of inflammation could help identify ICP, study finds
Women with intrahepatic cholestasis of pregnancy (ICP), the most common pregnancy-related liver complication, have significantly higher scores of two whole-body inflammation biomarkers than women…
Doing our part to hasten a cure for our daughter’s PFIC3
A few years ago I received an unexpected phone call from Birmingham Children’s Hospital here in England. Action Medical Research, a British charity working to…
Bylvay eases itch over long term in PFIC, Alagille syndrome patients
Nearly 1.5 years of treatment with Bylvay (odevixibat) effectively reduces itching and liver damage markers, and improves growth and sleep in people with…
High urine protein may be common sign of ICP, study finds
About 1 in 3 pregnant women with intrahepatic cholestasis of pregnancy (ICP), the most common pregnancy-related liver complication, had proteinuria, or high levels of…
PFIC caused by USP53 usually mild form of liver disease: Study
Progressive familial intrahepatic cholestasis (PFIC) caused by mutations in the USP53 gene results in a fairly mild form of the disease, with most of…
Medical play specialists saved the day for our daughter
We had a breakthrough this week with our 4-year-old daughter, Eva, who has progressive familial intrahepatic cholestasis (PFIC). I think we’ve finally found the…
Early-onset pregnancy cholestasis increases risk of diabetes: Study
Women diagnosed with intrahepatic cholestasis of pregnancy (ICP) before 24 weeks of gestation, or about six months, are significantly more likely to develop gestational…
Excessive copper in PFIC3 may lead to misdiagnosis: Case report
Excessive copper levels in the body led to an initial misdiagnosis of Wilson disease, a rare condition marked by copper buildup in the liver and…
New ABCB11 mutation linked to PFIC2, hypothyroidism in boy
A new ABCB11 gene mutation was the likely cause of progressive familial intrahepatic cholestasis type 2 (PFIC2) in a boy who was also born with…
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- Study: New ABCB4 mutations tied to different ages of PFIC3 onset
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