Congenital hepatic fibrosis

This is an autosomal recessive condition which can appear in a sporadic or familial form. Ductal plate malformation of interlobular bile ducts has been suggested as a pathogenetic mechanism of this disease (H.E. Mac-Mahon, 1929 R.G.F. Parker, 1956). Histologically, congenital hepatic fibrosis is characterized by dense mature fibrous tissue of the considerably enlarged and restructured portal fields subsequently, broad bands of connective tissue surround normal lobules and connect the portal fields with each other. These fibrous bands contain partly obliterated, partly dilated bile ducts, the latter often in the form of microcysts, (s. fig. 32.17)... 

Bauman, M.E., Pound, D.C., Ulbright, T.M. Hepatocellular carcinoma arising in congenital hepatic fibrosis. Amer. J. Gastroenterol. 1994 89 450-451... 

Bertheau, P, Degott, C., Belghiti, J., Vilgrain, V., Renard, P, Benha-mou, J.P, Henin, D. Adenomatous hyperplasia of the Uver in a patient with congenital hepatic fibrosis. J. Hepatol. 1994 20 213-217... 

Braga, A.C., Calheno, A., Rocha, H., Lourenco-Gomes, J. CaroU s disease with congenital hepatic fibrosis and medullary sponge kidney. J. Pediatr. Gastroenterol. Nutr. 1994 19 464-467... 

Manifestations of nephronophthisis with additional signs like congenital hepatic fibrosis, retinitis pigmentosa as well as cerebellar lesions are summarized as Senior-Loken syndrome mutations could be... 

Alvares F, Bernhard O, Brunelle F (1981) Congenital hepatic fibrosis in children. J Pediatr 99 370-375 Arant BS Jr, Soteol-Avila C, Bernstein J (1979) Segmental hypoplasia of the kidney (Ask-Upmark). J Pediatr... 

Boal DK, Teele R (1980) Sonography of infantile polycystic kidney disease. AJR 135 575-580 Boichis H, Passwell J, David R et al (1973) Congenital hepatic fibrosis and nephronophthisis. Q J Med 42 221-233 Borthne A, Nordshus T, Reiseter T et al (1999) MR urography the future gold standard in pediatric urogenital imaging. Pediatr Radiol 29 694-701... 

Kaplan BS, Kaplan P, Dechadarievan JP et al (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within one family. Am J Med Genet 29 639-647... 

This rare form, which is inherited via a recessive autosomal route, was described in 1968 as a variant of BRIC. (1, 2) The genetic defect is located on chromosome 15 q. A specific feature of this disease in neonates is giant-cell hepatitis with cholestasis, (s. p. 417) From about the 6 year of life until puberty, pathogenetic hypoplasia or ectasia of the lymphatic vessels with oedema are found in the lower extremities. It is not clear whether (suspected) congenital hyperplasia of lymphatic vessels in the liver is the prime cause of cholestasis. Pronounced fibrosis is often in evidence, whereas cirrhosis only occurs rarely. 

---