Disease relevance of Cholestasis, Intrahepatic

• Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21 [1].
• METHODS: Eighty-four symptomatic patients with intrahepatic cholestasis of pregnancy were randomized to receive either ursodeoxycholic acid, 8-10 mg/kg body weight daily (n = 42), or cholestyramine, 8 g daily (n = 42), for 14 days [2].
• A similar liver disease, benign recurrent intrahepatic cholestasis (BRIC), recently has been mapped to the same region, suggesting that these two diseases are caused by mutations in the same gene [3].
• Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction [4].
• We therefore analyzed rat gamma-glutamyl transpeptidase activities in liver, bile and serum during intrahepatic cholestasis induced by a single dose of alpha-naphthyl isothiocyanate (20 mg/100 gm body weight) and during extrahepatic cholestasis after bile duct ligation [5].

Psychiatry related information on Cholestasis, Intrahepatic

• BACKGROUND: We determined whether genetic variability in the gene encoding the bile salt export pump (BSEP) contributes to individual differences in susceptibility to the development of intrahepatic cholestasis of pregnancy (ICP) [6].

High impact information on Cholestasis, Intrahepatic

• A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis [7].
• We investigated whether the synthetic FXR agonist GW4064 could protect against cholestatic liver damage in rat models of extrahepatic and intrahepatic cholestasis [8].
• Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy [2].
• Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 [9].
• Is intrahepatic cholestasis of pregnancy an MDR3-related disease [10]?

Chemical compound and disease context of Cholestasis, Intrahepatic

• Ursodeoxycholic acid treatment of intrahepatic cholestasis of pregnancy: observations on efficacy and safety [11].
• Increase in biliary permeability subsequent to intrahepatic cholestasis by estradiol valerate in rats [12].
• Benign recurrent intrahepatic cholestasis: treatment with S-adenosylmethionine [13].
• Bile acid metabolism in benign recurrent intrahepatic cholestasis. Comparative studies on the icteric and anicteric phases of a single case [14].
• Lithocholate cholestasis--sulfated glycolithocholate-induced intrahepatic cholestasis in rats [15].

Biological context of Cholestasis, Intrahepatic

• This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype [16].
• A locus for progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, has been mapped to a 19 cM region of chromosome 18 by a search for shared segments, using patients from the Amish kindred in which the disorder was originally described [3].
• Taken together, these observations indicate that FXR plays an important role in BSEP gene expression and that FXR ligands may be potential therapeutic drugs for intrahepatic cholestasis [17].
• Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64 [18].
• Recent information about mitochondrial disease, NASH, disorders of glycosylation, Wilson's disease, and the progressive familial intrahepatic cholestases is discussed [19].

Anatomical context of Cholestasis, Intrahepatic

• Bile acid compositions in the serum, urine, bile, and feces were examined in a typical case of benign recurrent intrahepatic cholestasis for a period of 3 yr [14].
• Meconium peritonitis and increasing sweat chloride determinations in a case of familial progressive intrahepatic cholestasis [20].
• Primary cultures of rat hepatocytes as a model system of canalicular development, biliary secretion, and intrahepatic cholestasis. II. Taurolithocholate-induced alterations of canalicular morphology and of the distribution of filipin-cholesterol complexes [21].
• The role of liver plasma membrane (LPM) fluidity in the pathogenesis of intrahepatic cholestasis in rats was assessed by comparing the effects of ethinyl estradiol, a cholestatic agent, and spironolactone on membrane fluidity and bile flow [22].
• Their familial intrahepatic cholestasis syndrome was characterized by Coombs' negative haemolytic anaemia, without giant cell transformation of hepatocytes and high concentrations of serum gamma-glutamyl transpeptidase and cholesterol [23].

Gene context of Cholestasis, Intrahepatic

• Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis [24].
• Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD) [25].
• ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy [26].
• To determine whether HGF has any activity in vivo, we have tested HGF in rats in which intrahepatic cholestasis was induced by acute administration of alpha-naphthylisothiocyanate (ANIT) [27].
• In patients with progressive familial intrahepatic cholestasis or with Alagille syndrome serum IL-8 levels were similarly elevated [28].

Analytical, diagnostic and therapeutic context of Cholestasis, Intrahepatic

• We report immunohistochemistry for MDR3 P-gp, reverse transcription-coupled PCR sequence analysis, and genomic DNA analysis of MDR3 from two progressive familial intrahepatic cholestasis patients with high serum gamma-GT [24].
• This study showed that D-penicillamine therapy was associated with significant side-effects, while marked clinical, biochemical, or histological improvement did not follow effective copper chelation therapy in intrahepatic cholestasis of childhood [29].
• To our knowledge, this is the first reported case of procainamide-induced intrahepatic cholestasis as demonstrated by radionuclide hepatobiliary scintigraphy [30].
• OBJECTIVES: To evaluate the risk for atherosclerosis in Alagille syndrome (AGS) and progressive familial intrahepatic cholestasis (PFIC) on the basis of lipoprotein metabolism and by ultrasonography [31].
• Two primary bile acids, cholic acid (CA) and chenodeoxycholic acid (CDCA), and one secondary bile acid, deoxycholic acid (DCA), were measured by radioimmunoassay in pregnancy serum from 30 healthy women, 49 women with itching and 45 with intrahepatic cholestasis of pregnancy [32].

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