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Liver involvement is a result of congenital hepatic fibrosis or Caroli disease, which may progress to portal hypertension, hypersplenism with resultant thrombocytopenia and recurrent ascending cholangitis (Caroli syndrome).
Keeleigh, of Bridgwater, Somerset, was diagnosed with rare congenital hepatic fibrosis liver disease and autosomal recessive polycystic kidney disease when she was 14 months old.
Last year, Marley Gill was diagnosed with portal hypertension, congenital hepatic fibrosis, polycystic kidney disease and Caroli disease - serious genetic conditions affecting his liver and kidneys.
Autosomal dominant polycystic liver disease is part of the spectrum of fibropolycystic liver diseases that are caused by congenital bile duct malformation, including bile duct hamartoma, Caroli's disease, congenital hepatic fibrosis, and choledochal cyst.
This leads to different congenital bile duct disorders, such as Caroli disease and syndrome, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, congenital hepatic fibrosis, and bile duct hamartomas (BDHs, also known as von Meyenburg complexes).
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