Congenital hepatic fibrosis
|Congenital hepatic fibrosis|
|Congenital hepatic fibrosis has an autosomal recessive pattern of inheritance.|
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.
Signs and symptoms
The clinical presentation of this condition is as follows:
- Large liver
- Large spleen
- Gastrointestinal bleeding
- Portal hypertension
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.
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.
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.
Liver biopsy is diagnostic. In biopsy there is diffuse periportal and perilobular fibrosis in broad bands, containing distorted duct like structure or microcyst formation.
Management includes control of esophageal bleeding/varices and treatment of associated renal disease if present.
- "Congenital hepatic fibrosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 21 March 2021. Retrieved 9 December 2021.
- "eMedicine - Congenital Hepatic Fibrosis : Article by Hisham Nazer, MBBCh, FRCP". Archived from the original on 2007-06-25. Retrieved 2007-06-30.
- 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.
- GeneReviews/NCBI/NIH/UW entry on Congenital Hepatic Fibrosis Overview Archived 2009-09-27 at the Wayback Machine