Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype–phenotype relationship [PDF]
Clinical Case Reports, 2017 Key Clinical Message We report an otherwise healthy 32‐year‐old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations
Ida Vogel +5 more
doaj +3 more sources
A family of congenital hepatic fibrosis and atypical retinitis pigmentosa [PDF]
Clinics and Practice, 2015 Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar +5 more
doaj +4 more sources
Congenital Hepatic Fibrosis in a 2-Year-Old Child Presenting with Fever of Unknown Origin [PDF]
Case Reports in Pediatrics, 2023 Congenital hepatic fibrosis is a rare, autosomal recessive, fibro-polycystic disease resulting from ductal plate malformation, leading to proliferation and fibrosis of bile ducts.
Michael P. Penfold +3 more
doaj +2 more sources
Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome—Case Series and Literature Review [PDF]
Gastroenterology Research and Practice, 2020 Background. Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults.
Beidi Zhu +5 more
doaj +2 more sources
Congenital hepatic fibrosis: case report and review of literature [PDF]
The Pan African Medical Journal, 2021 Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui +6 more
doaj +2 more sources
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2010 Congenital hepatic fibrosis (CHF) is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease.
MH Antikchi, R Hoseini
doaj +4 more sources
Biliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome [PDF]
BMC Infectious Diseases, 2023 Background CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication ...
Jiawei Sun +12 more
doaj +2 more sources
P-STAT3-dependent SPP1 transcription in cholangiocytes drives hepatic stellate cells activation in congenital hepatic fibrosis [PDF]
Communications BiologyCongenital hepatic fibrosis (CHF) is a rare inherited liver disorder caused by mutations in the polycystic kidney and hepatic disease-1 gene (PKHD1), leading to progressive hepatic fibrosis.
Mengfan Jiao +8 more
doaj +2 more sources
Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution [PDF]
Diagnostic Pathology, 2021 Background Congenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease. The diagnosis requires histopathologic confirmation, but can be challenging to distinguish from other undefined ...
Irene Y. Chen +2 more
doaj +2 more sources
Congenital hepatic fibrosis in an adult female combined with Von Meyenburg complex and autosomal dominant polycystic kidney disease: a case report [PDF]
Frontiers in GastroenterologyBackgroundCongenital hepatic fibrosis (CHF) is a rare disease associated with the polycystic kidney gene, and the initial symptoms are often associated with portal hypertension, such as splenomegaly and esophageal varices.
Xinrui Ren +9 more
doaj +2 more sources