Congenital Hepatic Fibrosis

03/01/1999 - "The improved platelet count allowed the four children with congenital hepatic fibrosis and renal failure to undergo renal transplantation with full posttransplant immunosuppression including azathioprine. "

01/01/2013 - "Therefore, telmisartan ameliorates congenital hepatic fibrosis in ARPKD, possibly through the inhibition of signaling cascades responsible for cellular proliferation and interstitial fibrosis in PCK rats. "

10/01/2018 - "Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. "
02/01/2009 - "Matrix proteins of basement membrane of intrahepatic bile ducts are degraded in congenital hepatic fibrosis and Caroli's disease."
01/01/2022 - "Congenital hepatic fibrosis (CHF) is a developmental liver disease that is caused by mutations in genes that encode ciliary proteins and is characterized by bile duct dysplasia and portal fibrosis. "
08/01/2005 - "Congenital hepatic fibrosis whether it is accompanied by bile duct dilatations (Caroli's syndrome) or not, may be associated with autosomal recessive polycystic kidney disease, which is caused by mutations in PKHD1 that encodes fibrocystin, a protein of primary cilia. "
04/01/1999 - "Congenital hepatic fibrosis liver tissue homogenates had higher levels of thrombospondin-1 and transforming growth factor-beta1 protein than in normal livers. "

01/01/2022 - "Dysregulation of the Scribble/YAP/β-catenin axis sustains the fibroinflammatory response in a PKHD1-/- mouse model of congenital hepatic fibrosis."
09/01/2023 - "Retraction: Protein kinase a-dependent pSer 675 -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis."
01/01/2022 - "Congenital hepatic fibrosis (CHF), a genetic cholangiopathy characterized by fibropolycystic changes in the biliary tree, is caused by mutations in the PKHD1 gene, leading to defective fibrocystin (FPC), changes in planar cell polarity (PCP) and increased β-catenin-dependent chemokine secretion. "
01/01/2018 - "β-Catenin and interleukin-1β-dependent chemokine (C-X-C motif) ligand 10 production drives progression of disease in a mouse model of congenital hepatic fibrosis."
01/01/2018 - "Congenital hepatic fibrosis (CHF), a genetic disease caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, encoding for the protein fibrocystin/polyductin complex, is characterized by biliary dysgenesis, progressive portal fibrosis, and a protein kinase A-mediated activating phosphorylation of β-catenin at Ser675. "

04/01/1999 - "Congenital hepatic fibrosis-derived stellate cells secreted both thrombospondin-1 and transforming growth factor-beta1, in vitro. "
04/01/1999 - "In congenital hepatic fibrosis tissue, transforming growth factor-beta1 was more highly expressed in the ectatic biliary epithelium and the perisinusoidal space, whereas thrombospondin-1 localized most intensely to the hepatocytes and spared the bile ducts. "
04/01/1999 - "Increased expression of transforming growth factor-beta1 and thrombospondin-1 in congenital hepatic fibrosis: possible role of the hepatic stellate cell."
01/01/2006 - "TGF-beta1 is the possible shared pathogenetic factor on a patient with muscular dystrophy and congenital hepatic fibrosis."
04/01/1999 - "Transforming growth factor-beta1 and thrombospondin-1 may play a role in the pathogenesis of liver fibrosis in patients with congenital hepatic fibrosis. "

09/01/2023 - "Retraction: Protein kinase a-dependent pSer 675 -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis."
01/01/2018 - "Congenital hepatic fibrosis (CHF), a genetic disease caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, encoding for the protein fibrocystin/polyductin complex, is characterized by biliary dysgenesis, progressive portal fibrosis, and a protein kinase A-mediated activating phosphorylation of β-catenin at Ser675. "

07/01/1978 - "The findings are discussed in relation to previous reports of nephronophthisis associated with either retinal abnormalities or congenital hepatic fibrosis. "
08/01/2019 - "Congenital hepatic fibrosis and coexistent retinal macular degeneration: A case report."
07/01/1978 - "This report describes clinical and morphological findings in monozygotic twins in whom the triad of juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia coexisted. "
07/01/1978 - "Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins."

07/01/2000 - "Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency."
09/01/1999 - "Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy."
07/01/2000 - "Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. "
07/01/2000 - "Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy."

01/01/2022 - "Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis."
01/01/2017 - "In a 20-year-old Korean man, we found cerebellar ataxia, isolated elevation in serum γ-glutamyl transpeptidase (γ-GTP) activity, oligophrenia, the molar tooth sign (MTS) in the brain MR images and congenital hepatic fibrosis (CHF). "

12/01/2009 - "He was diagnosed with congenital hepatic fibrosis with recurrent acute cholangitis without intrahepatic duct dilatation, and conservatively treated with antibiotics."
01/01/1985 - "Optimal therapy of congenital hepatic fibrosis with cholestasis but without mechanical biliary obstruction may involve the combined use of a choleretic such as dehydrocholic acid plus a suppressive antibiotic."

11/01/2012 - "Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor."
04/01/2002 - "Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease."
10/01/2003 - "Given the fact that a majority of PKD children with ESRD carry the diagnosis of ARPKD, natural history studies assessing the long-term prognosis of PKD patients following renal transplantation must focus on morbidity and mortality issues related to complications from congenital hepatic fibrosis. "
01/01/2015 - "Genetic conditions, such as polycystic kidney disease, which lead to the need for kidney transplantation are also associated with liver diseases including congenital hepatic fibrosis and polycystic liver disease. "
07/01/2008 - "From September 2006 to June 2007 3 combined liver kidney transplantations (CLKT) were performed for polycystic disease with end-stage renal disease: 2 with polycystic liver disease, and 1 with hepatic failure due to congenital hepatic fibrosis. "

01/01/2021 - "Liver transplantation for congenital hepatic fibrosis."
06/01/2020 - "Living donor liver transplantation for congenital hepatic fibrosis in children."
11/28/2016 - "This is the first report of living donor liver transplantation (LDLT) for congenital hepatic fibrosis (CHF) using a mother's graft with von Meyenburg complex. "
11/28/2016 - "Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report."
01/01/2010 - "Congenital hepatic fibrosis and need for liver transplantation."

09/01/1993 - "A right hepatectomy, removing the most severely affected liver parenchyma was not considered feasible because of the small size of the left lobe and the existence of an associated congenital hepatic fibrosis. "
11/01/2008 - "The hepatectomy sample from the liver transplantation showed large cystic dilatations at the level of segments VII and VIII. The pathological study reported congenital dilatation of the intrahepatic bile ducts, associated with congenital hepatic fibrosis (Caroli's syndrome). "
01/01/2010 - "Herein, we describe two patients who underwent liver transplantation with the clinical diagnosis of hepatic failure and cryptogenic cirrhosis; histopathology of the explanted hepatectomy specimen revealed congenital hepatic fibrosis. "

02/01/1994 - "The respective roles of congenital hepatic fibrosis and splenorenal shunts in the development of these nodules are discussed."
04/01/2019 - "A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report."
02/01/1994 - "We report the case of a 30-year-old man suffering from congenital hepatic fibrosis, who was treated at age 12 by splenorenal shunt for portal hypertension, and who developed numerous, large hepatic nodules. "
03/01/2006 - "The recipient had pancytopenia, splenomegaly, splenorenal shunts and esophageal varices due to congenital hepatic fibrosis. "
07/01/1985 - "Portal hypertension was due to schistosomiasis (N = 9), cirrhosis (N = 7) and congenital hepatic fibrosis (N = 2) diagnosed by surgical biopsy during the decompressive surgery (selective splenorenal shunt). "

04/01/2019 - "Caroli syndrome, characterized by saccular dilatation of intrahepatic ducts and congenital hepatic fibrosis, is without therapy in part due to its ultra-rare prevalence and the apparent lack of availability of a suitable experimental model. "
07/01/2000 - "Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy."
01/01/1985 - "Optimal therapy of congenital hepatic fibrosis with cholestasis but without mechanical biliary obstruction may involve the combined use of a choleretic such as dehydrocholic acid plus a suppressive antibiotic."