progressive familial intrahepatic 1 Cholestasis

05/01/2011 - "Partial internal biliary diversion: a solution for intractable pruritus in progressive familial intrahepatic cholestasis type 1."
01/01/2008 - "Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases."
10/01/2005 - "Here, we present a five-year-old boy with lichenification and enlargement of hands and feet as a sign of progressive familial intrahepatic cholestasis due to severe pruritus."
02/01/1998 - "Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus."
07/01/2014 - "Another child (15 years) with progressive familial intrahepatic cholestasis (PFIC) and pruritus, despite liver transplantation and biliary diversion, was studied. "

02/01/1998 - "Over a 3-year period, we identified for study seven children with liver histology characteristic of Byler's disease accompanying a clinical picture of chronic cholestasis without a defined metabolic or anatomic abnormality. "
11/01/2015 - "Our findings suggest that, in a heterozygous carrier of a progressive familial intrahepatic cholestasis mutation, drug-induced cholestasis is responsive to treatment, after which the clinical picture can normalize within 3 months. "
06/01/2015 - "Apart from bile duct atresia, three types of progressive familial intrahepatic cholestasis (PFIC) are common causes of severe cholestasis in children. "
06/01/2014 - "For other genetic diseases causing neonatal cholestasis, such as Alagille's syndrome and progressive familial intrahepatic cholestasis the breakthrough within the field of molecular biology has definitely deepened our understanding of both etiology and pathogenesis. "
01/01/2014 - "A hereditary defect of BSEP results in severe cholestasis called progressive familial intrahepatic cholestasis type 2 (PFIC2). "

10/01/2010 - "The aim of this study was to examine whether reversion of histological fibrosis followed partial external biliary diversion (PEBD) in patients with progressive familial intrahepatic cholestasis (PFIC); whether the duration of cholestatic episodes after PEBD influenced the evolution of fibrosis; and whether genotyping was helpful in predicting outcome of PEBD. "
01/01/2015 - "Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients."
10/01/2014 - "Untreated, progressive familial intrahepatic cholestasis (PFIC) results in fibrosis, cirrhosis, and liver failure. "
01/01/2014 - "This presents the first documented case of non-ischaemic dilated cardiomyopathy, with evidence of mid wall fibrosis, in association with an established diagnosis of progressive familial intrahepatic cholestasis type 1 since childhood. "
05/01/2011 - "Progressive familial intrahepatic cholestasis, type 2 (PFIC2), characterized by cholestasis in infancy that may progress to cirrhosis, is caused by mutation in ABCB11, which encodes bile salt export pump (BSEP). "

01/01/2008 - "We reviewed the explant livers of seven children with metabolic disorders [ornithine-transcarbamylase deficiency (one), coagulation factor VII deficiency (three), Crigler-Najjar syndrome (one), progressive familial intrahepatic cholestasis type 2 (PFIC-2) deficiency (two)] who received allograft hepatocytes by intraportal infusion with improvement in phenotype, although all later underwent liver transplantation (LT). "

01/01/2008 - "We reviewed the explant livers of seven children with metabolic disorders [ornithine-transcarbamylase deficiency (one), coagulation factor VII deficiency (three), Crigler-Najjar syndrome (one), progressive familial intrahepatic cholestasis type 2 (PFIC-2) deficiency (two)] who received allograft hepatocytes by intraportal infusion with improvement in phenotype, although all later underwent liver transplantation (LT). "