Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts within the portal areas and fibrosis that do not alter hepatic lobular architecture. The fibrosis would affect resistance in portal veins leading to portal hypertension.[citation needed]
Congenital hepatic fibrosis
Congenital hepatic fibrosis has an autosomal recessive pattern of inheritance.
The condition is usually congenital, but sporadic cases have also been reported. It may be associated with other congenital defects, commonly with autosomal recessive polycystic kidney disease, the most severe form of PKD. Some suggest that these two conditions are one disorder with different presentation.[1]
Mechanismedit
Embryogenically, congenital hepatic fibrosis is due to malformation of the duct plate, a round structure appearing in the eighth week of gestation that is formed by primitive hepatocytes, which differentiate into cholangiocytes.[2] Congenital hepatic fibrosis usually presents in adolescent or young adulthood, but onset of signs and symptoms can range from early childhood through mid-life. Clinical features may vary but commonly include cholangitis, hepatomegaly and signs of portal hypertension.[citation needed]
Diagnosisedit
Liver biopsy is diagnostic. In biopsy there is diffuse periportal and perilobular fibrosis in broad bands, containing distorted duct like structure or microcyst formation.[citation needed]
Managementedit
Management includes control of esophageal bleeding/varices and treatment of associated renal disease if present.[citation needed]
^Jorge OA, Jorge AD (2006). "Congenital hepatic fibrosis associated with von Recklinghausen's disease". Revista Española de Enfermedades Digestivas. 98 (9): 693–7. doi:10.4321/s1130-01082006000900007. PMID 17092201.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Congenital Hepatic Fibrosis Overview
April 14, 2024
congenital, hepatic, fibrosis, inherited, fibrocystic, liver, disease, associated, with, proliferation, interlobular, bile, ducts, within, portal, areas, fibrosis, that, alter, hepatic, lobular, architecture, fibrosis, would, affect, resistance, portal, veins,. Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts within the portal areas and fibrosis that do not alter hepatic lobular architecture The fibrosis would affect resistance in portal veins leading to portal hypertension citation needed Congenital hepatic fibrosisCongenital hepatic fibrosis has an autosomal recessive pattern of inheritance SpecialtyGasteroenterology Contents 1 Cause 2 Mechanism 3 Diagnosis 4 Management 5 See also 6 References 7 External linksCause editThe condition is usually congenital but sporadic cases have also been reported It may be associated with other congenital defects commonly with autosomal recessive polycystic kidney disease the most severe form of PKD Some suggest that these two conditions are one disorder with different presentation 1 Mechanism editEmbryogenically congenital hepatic fibrosis is due to malformation of the duct plate a round structure appearing in the eighth week of gestation that is formed by primitive hepatocytes which differentiate into cholangiocytes 2 Congenital hepatic fibrosis usually presents in adolescent or young adulthood but onset of signs and symptoms can range from early childhood through mid life Clinical features may vary but commonly include cholangitis hepatomegaly and signs of portal hypertension citation needed Diagnosis editLiver biopsy is diagnostic In biopsy there is diffuse periportal and perilobular fibrosis in broad bands containing distorted duct like structure or microcyst formation citation needed Management editManagement includes control of esophageal bleeding varices and treatment of associated renal disease if present citation needed See also editCaroli disease Polycystic kidney disease Von Meyenburg complex Biliary hamartomasReferences edit eMedicine Congenital Hepatic Fibrosis Article by Hisham Nazer MBBCh FRCP Retrieved 2007 06 30 Jorge OA Jorge AD 2006 Congenital hepatic fibrosis associated with von Recklinghausen s disease Revista Espanola de Enfermedades Digestivas 98 9 693 7 doi 10 4321 s1130 01082006000900007 PMID 17092201 External links editGeneReviews NCBI NIH UW entry on Congenital Hepatic Fibrosis Overview Retrieved from https en wikipedia org w index php title Congenital hepatic fibrosis amp oldid 1182612314, wikipedia, wiki, book, books, library,