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…
Cholestasis
CHOLESTASIS
NewsNew 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…
CHOLESTASIS
NewsIVF linked to higher rates of cholestasis pregnancy complication
Women who conceive with the help of in vitro fertilization (IVF) — a commonly used assisted reproductive technology — are almost three times more likely…
CHOLESTASIS
NewsCase study supports efficacy of biliary diversion surgery for PFIC4
Biliary diversion surgery — which can be used in patients with bile duct problems — successfully reduced markers of liver damage, lessened itching, and improved…
CHOLESTASIS
NewsAbnormal blood lipid levels linked with ICP, pregnancy complications
Abnormal levels of certain fatty molecules, or lipids, in the blood appear to increase the risk of intrahepatic cholestasis of pregnancy (ICP) and its…
CHOLESTASIS
ColumnsMy daughter’s PFIC reminds me why organ donation is important
This year, the U.K.’s National Health Service is marking the 30th anniversary of the establishment of its Organ Donor Register, which was founded to…
CHOLESTASIS
NewsNew ABCB4 mutation deemed cause of PFIC3 in 2 unrelated girls
A new ABCB4 gene mutation was the likely cause of progressive familial intrahepatic cholestasis type 3 (PFIC3) in two unrelated Southeast Asian girls, a study…
Scientists in Thailand have identified four new mutations in the PLEC gene as the likely cause of progressive familial intrahepatic cholestasis (PFIC) in two…
Two weeks of oral methylprednisolone twice a day as an add-therapy significantly lowered signs of liver damage and inflammation among infants with cholestasis, a…
CHOLESTASIS
NewsSeven new ABCB11 gene mutations identified as cause of PFIC2
Seven new ABCB11 gene mutations were identified as the likely cause of progressive familial intrahepatic cholestasis (PFIC2), according to a study that analyzed the…
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