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Copyright ©2010 Baishideng.
World J Gastroenterol. Feb 14, 2010; 16(6): 683-690
Published online Feb 14, 2010. doi: 10.3748/wjg.v16.i6.683
Table 1 Syndromes with associated congenital hepatic fibrosis
Associated disorderGenetic anomaly [chromosome (gene)]Characteristic clinical features
Caroli syndrome6p21.1-p12 (PKHD1 gene)Caroli’s disease - ectasia or segmental dilatation of the larger intrahepatic ducts
Polycystic kidney disease6p21.1-p12 (PKHD1 gene)Progressive cystic dilation of the renal tubule (resulting in renal failure), hepatic cysts, cerebral aneurysms, cardiac valvular abnormalities
Joubert syndrome9q34.3; 11p12-q13; 6q23 (AHI1 gene); 2q13 (NPHP1 gene); 12q21.32 (CEP290 or NPHP6 gene); 8q21 (TMEM67 gene); 16q12.2 (RPGRIP1L gene)Cerebellar vermis hypoplasia retinitis pigmentosa, nystagmus, ataxia
Senior-Loken syndrome2q13 (NPHP1, NPHP4, NPHP5 genes); 3q22 (NPHP3 gene)Cerebellar ataxia and skeletal abnormalities, nephronophthisis, retinal dystrophy, sensorineural hearing loss
COACH syndrome4p15.3 (CC2D2A gene)Cerebellar vermis hypo/aplasia, oligophrenia, ataxia, coloboma, polydactyly
Cogan syndrome2q13 (NPHP1 gene)Oculomotor apraxia, nephronophthisis, cerebellar ataxia
Arima syndromeNot yet establishedCerebellar vermis hypoplasia, renal abnormalities, psychomotor retardation
Meckel syndrome17q23 (MKS1 gene); 8q (TMEM67 gene); 12q (CEP290 gene); 16q12.2 (RPGRIP1L gene); 4p15 (CC2D2A gene); 11qMicrocephaly, renal cystic disease, hypoplastic or ambiguous genitalia, polydactyly, congenital heart defect, cleft palate, ocular defects
Bardet-Biedl syndrome11q13; 16q21; 3p12-q13 (ADP-ribosylation factor gene); 15q22.3; 2q31; 20p12 (MKKS gene); 4q27; 14q32.11 (tetratricopeptide repeat domain-containing gene); 7p14; 12q; 9q33.1; 4q27; 17q23 (MKS1 gene); 12q21.3 (CEP290 gene)Rod-cone dystrophy (atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction
Alstrom syndrome2p13 (ALMS1 gene)Childhood obesity congenital retinal dystrophy, sensorineural hearing loss, endocrinopathies, cardiomyopathy, renal failure
Oral-Facial-Digital type IV - Mohr-Majewski syndromeNot yet establishedLobulated tongue, pseudo-cleft of lip, hyperplastic frenula, polydactyly, severe bilateral deafness
Table 2 Several antifibrotic agents studied in the setting of hepatic fibrosis of different etiologies[33-43]
AuthorsAntifibrotic agent studiedPatient group (n)Dose usedTherapeutic efficacy
Kershenobich et al[33], 1988ColchicineCirrhosis - all causes (100)0.6-1.8 mg/d5-yr survival rates: colchicine 75%, placebo 34%; Histological improvement: colchicine 30%, placebo 0%
Pockros et al[34], 2007IFN-γCirrhosis - HCV-related (488)IFN-γ 1b 100 mg and 200 mgHistological improvement in select group with IFN-inducible T cell a chemoattractant (I-TAC),
Weng et al[35], 2005IFN-γCirrhosis - HBV-related (99)50 mg IFN-γ intramuscularly on a daily basis for 3 moHistological improvement: treatment group 63%, control group 24.1%
Debernardi-Venon et al[36], 2007Angiotensin II receptor blockers (candesartan)Cirrhosis - all causes (47)8 mg/dHas been shown to decrease hepatic venous pressure gradient in patients with cirrhotic portal hypertension; studies investigating histological improvement still underway
Neuschwander-Tetri et al[37], 2003PPAR ligands (rosiglitazone)NASH associated fibrosis (30)4-8 mg/dSignificant improvements in zone 3 perisinusoidal fibrosis
Armendáriz-Borunda et al[38], 2006PirfenidoneHCV-related fibrosis (15)1200 mg/dHistological improvement in 30% of patients
Ferenci et al[39], 1989SilymarinCirrhosis - all causes (170)140 mg three times daily4-yr survival rate: silymarin 58%, placebo 39%; no histopathological studies available
Nelson et al[40], 2003Interleukin-10HCV related fibrosis (30)subcutaneously at a daily or thrice weekly dose of 8 pg/kg or a thrice weekly dose of 4 pg/kgSignificant improvements in histology
Poupon et al[41], 2003Ursodeoxycholic acidPBC (367)15-20 mg/kg per daySignificantly delayed progression of histopathological changes
Lieber et al[42,43], 2003PolyenylphosphatidylcholineChronic alcoholics (789)1.5 g three times dailyNo improvement in fibrosis; new study underway