No abstract available.
Cholestasis, Intrahepatic*

No abstract available.
Alagille Syndrome* ; Cholestasis ; Xanthomatosis*

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.
Alleles ; Bile Ducts, Extrahepatic ; Child ; Cholestasis, Intrahepatic ; Heterozygote ; Humans ; Jaundice, Obstructive ; Korea ; Wills

Benign recurrent intrahepatic cholestasis (BRIC) is a rare desease, which usually manifests between the age of 10 and 20. Its main clinical feature is multiple recurrent episodes of cholestasis without extrahepatic bile duct obstruction. We report here a case of nonfamilial benign recurrent intrahepatic cholestasis. The patient has experienced recurrent jaundice with pruritus since childhood. Main bile duct obstrution was excluded by abdominal CT and endoscopic retrograde cholangiopancreatography. Other causes of cholestasis were not found. Hepatic histology revealed bile plug which were mainly concentrated in the centrilobular region, and increased number of mononuclear cells in the portal triad, but hepatic parenchyma showed no inflammation and necrosis. In the last anicteric period, she was healthy and the liver function test and biopsy specimen were normal.
Bile ; Bile Ducts ; Bile Ducts, Extrahepatic ; Biopsy ; Cholangiopancreatography, Endoscopic Retrograde ; Cholestasis ; Cholestasis, Intrahepatic* ; Humans ; Inflammation ; Jaundice ; Liver Function Tests ; Necrosis ; Pruritus ; Tomography, X-Ray Computed

Benign recurrent intrahepatic cholestasis (BRIC) is a rare desease, which usually manifests between the age of 10 and 20. Its main clinical feature is multiple recurrent episodes of cholestasis without extrahepatic bile duct obstruction. We report here a case of nonfamilial benign recurrent intrahepatic cholestasis. The patient has experienced recurrent jaundice with pruritus since childhood. Main bile duct obstrution was excluded by abdominal CT and endoscopic retrograde cholangiopancreatography. Other causes of cholestasis were not found. Hepatic histology revealed bile plug which were mainly concentrated in the centrilobular region, and increased number of mononuclear cells in the portal triad, but hepatic parenchyma showed no inflammation and necrosis. In the last anicteric period, she was healthy and the liver function test and biopsy specimen were normal.
Bile ; Bile Ducts ; Bile Ducts, Extrahepatic ; Biopsy ; Cholangiopancreatography, Endoscopic Retrograde ; Cholestasis ; Cholestasis, Intrahepatic* ; Humans ; Inflammation ; Jaundice ; Liver Function Tests ; Necrosis ; Pruritus ; Tomography, X-Ray Computed

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.
Child ; Cholestasis ; Cholestasis, Intrahepatic ; Fatty Liver ; Genetic Testing ; Humans ; Korea ; Liver Cirrhosis, Biliary ; Liver Failure ; Liver Transplantation ; Steatorrhea ; Transferases

PURPOSE: The possible mechanisms of increased arylamine N-methyl- transferase (AMT) activity in cholestatic rat livers and serum were studied. METHODS: Rats were divided into eight groups: rats receiving a sham operation, rats with a bile duct obstruction (BDO) alone (BDO group), rats with a BDO plus taurocholic acid (TCA) injection (BDO plus TCA group), rats with a BDO plus tauroursode oxycholic acid (TUDCA) injection (BDO plus TUDCA group), rats receiving a choledocho-caval shunt (CCS) operation (CCS groups), rats receiving a CCS operation plus TCA injection (CCS plus TCA group), and rats receiving a CCS operation plus TUDCA injection (CCS plus TUDCA group). The AMT activities in the serum and in the hepatic subcellular fractions isolated from the above experimental rats were determined. The values of Km and Vmax in this hepatic enzyme were measured. RESULTS: The activities of liver mitochondrial and microsomal AMTs as well as the Vmax values of AMT, were found to be increased significantly in both the CCS plus TCA group and the BDO plus TCA group compared with the CCS and BDO groups. On the other hand, the values of Km of hepatic subcellular AMT was the same in all experimental groups. The serum AMT activity increased significantly in both the CCS plus TCA group and the BDO plus TCA group compared with control the CCS and BDO group. However, these serum and hepatic enzyme activities were the same in both the CCS plus TUDCA group and the BDO plus TUDCA group. CONCLUSION: The above results suggest that TCA stimulates the biosynthesis of AMT in the liver. Also, the elevated AMT activity in the serum is thought to be caused by an increase in the membrane permeability of hepatocytes from liver cell necrosis caused by TCA.
Animals ; Cholestasis ; Cholestasis, Extrahepatic ; Hand ; Hepatocytes ; Liver ; Membranes ; Necrosis ; Permeability ; Rats* ; Subcellular Fractions ; Taurocholic Acid* ; Transferases

Humans ; Mutation ; Cholestasis, Intrahepatic

Jaundice is one of the poor prognostic factors in the patient with hepatocellular carcinoma (HCC). In HCC patients, the most common cause of jaundice is liver parenchymal dysfunction and jaundice due to biliary obstruction is relatively rare. However, it is clinically important because biliary obstruction can be treated effectively with biliary drainage procedure and by that quality of life and survival of the patient can be improved. It is important to identify the mechanism and location of the bile duct obstruction for an appropriate management of the biliary obstruction. Endoscopic retrograde biliary drainage (ERBD) has commonly been selected as the first-line treatment. However, percutaneous transhepatic biliary drainage or endoscopic ultrasound guided biliary drainage also can be used when the endoscopic approach is impossible or when ERBD fails. Between two types of stents - plastic or self-expandable metal, there is no definitive evidence about which one is superior. Stent type should be selected according to the characteristics of obstruction and expected survival of patient.
Carcinoma, Hepatocellular* ; Cholestasis ; Cholestasis, Extrahepatic ; Disease Management ; Drainage ; Humans ; Jaundice ; Jaundice, Obstructive* ; Liver ; Plastics ; Quality of Life ; Stents ; Ultrasonography

Cholestasis ; complications ; metabolism ; therapy ; Cholestasis, Intrahepatic ; etiology ; metabolism ; therapy ; Humans