Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Extrahepatic and intrahepatic biliary obstruction of different etiology were studied in 62 patients, who were investigated for the presence of lipoprotein X (Lp-X). It was found present in 19 of 20 cholestasis by lithiasis, in all three primary biliary cirrhosis patients, in 2 of 4 cirrhosis, in 5 of 13 hepatitis, in all three benign recurrent intrahepatic cholestasis and in 1 of 2 recurrent juandice of pregnancy. It was found in a Dubin Johnson. Lp-X disappeared in 4 patients within two weeks after relief of the obstruction. It was found in patients with cholestatic hepatitis during the first week of jaundice. It was found in the first 48 hours in three patients with cholestasis by lithiasis. Lp-X does not help in differential diagnosis between extrahepatic and intrahepatic biliary obstruction, but the time of its appearance could contribute to it in some cases. A word of caution is raised in indicating surgery in a cholestatic patient without the presence of Lp-X.
 ...
PMID:LP-X in cholestasis. 17 23

Mild abnormalities of liver function tests are frequently seen in pregnancy but return to normal after delivery. A raised serum alkaline phosphatase is common, along with a decline in the serum albumin, but the aminotransferases remain within normal limits. The physician must interpret abnormal liver function tests in pregnancy with these changes in mind, but most liver diseases in pregnancy result in more marked alterations. Viral hepatitis is the most common cause of jaundice in pregnancy, and the maternal prognosis is generally good. Perinatal transmission of hepatitis B virus is likely when the mother is positive for HBsAg. Concurrent administration of hepatitis B vaccine and HBIG to the infant has an efficacy of 90 per cent in preventing transmission to the infant. ICP is the second most common cause of jaundice in pregnancy. The condition is generally benign, although maternal and fetal mortality occasionally result, probably due to premature delivery and the bleeding tendency of cholestatic patients. Vitamin K administration may correct the coagulopathy, and cholestyramine is effective in controlling pruritus. AFLP is rare but carries a high mortality rate for both the mother and the fetus. Early diagnosis, correction of the coagulopathy, and prompt delivery may improve the outcome significantly. Patients with cirrhosis have reduced fertility, and in those who become pregnant, fetal loss is high. The effect of pregnancy or hepatocellular function is variable, but, when evidence of liver failure is present in the first trimester, termination should be considered. Variceal size and the risk of bleeding may be assessed by endoscopy. Pregnant cirrhotic patients with large esophageal varices and a history of bleeding can undergo shunt surgery. Conservative management may be appropriate for patients with small varices and no history of bleeding.
 ...
PMID:Liver diseases in pregnancy. 405 85

In distinguishing normal from abnormal hepatic changes, the author described the expected changes in liver tests that occur during complicated pregnancy. This article reviews the forms of pre-existing liver disease that may affect or be affected by pregnancy, as well as liver diseases that tend to arise during pregnancy. Among the pre-existing liver diseases are autoimmune chronic active hepatitis, which may be activated by pregnancy and tends to be associated with an increased risk of still and premature births. Worsening of chronic hepatitis B and C has occasionally been observed. While some women with cirrhosis can sustain a normal pregnancy without any worsening of hepatic function, others develop liver failure; plus, women with cirrhosis are less fertile and have higher rates of both stillbirths and premature infants. Other liver disorders that may or may not be affected by pregnancy include Dubin-Johnson syndrome, Gilbert syndrome, benign recurrent intrahepatic cholestasis, Wilson's disease, hepatic adenomas, and focal nodular hyperplasia. Among the hepatic disorders that occur during pregnancy in normally healthy women and then resolve after delivery is intrahepatic cholestasis of pregnancy (also known as pruritus gravidarum, recurrent intrahepatic cholestasis of pregnancy, and obstetric hepatosis). Others include acute fatty liver of pregnancy and HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count), which may be part of the spectrum of disorders associated with pre-eclampsia/eclampsia. Pregnancy may also trigger the dissemination of herpes infection to the liver.
 ...
PMID:Liver problems in pregnancy: part 2--managing pre-existing and pregnancy-induced liver disease. 973 96

Identification of the transport systems involved in bile secretion and of the genes codifying these systems has allowed the etiology of familial intrahepatic cholestasis to be determined in most affected children. Mutations in ATP8B1 cause a defect in FIC1, an aminophospholipid flipase, and give rise to a variable spectrum of disease, ranging from progressive intrahepatic cholestasis to benign recurrent cholestasis, due to alterations in the lipid composition of the membranes and decreased expression of the nuclear factor FXR. Mutations in ABCB11 cause a defect of the canalicular bile salt export pump (BSEP), with early clinical manifestations and progression to hepatocellular failure in childhood. Mutations in ABCB4 cause an alteration in the MDR3 phospholipid transporter, and a variable spectrum of disease from progressive ductal injury to cirrhosis in children, and gallstones, cholestasis of pregnancy, or late cirrhosis in adults.
 ...
PMID:[Childhood cholestasis and bile transporters]. 1613 74

This is a case report of a 36 years old man who has been suffering for 20 years from benign recurrent intrahepatic cholestasis (BRIC). BRIC is a rare autosomal recessive disease characterised by prolonged episodes of intrahepatic cholestasis and pruritus alternating with periods of nearly normal liver function, and does not progress to cirrhosis. Since all former approaches to medical treatment of the patients severe pruritus were ineffective, the patient was treated by 3 sessions of albumin dialysis (MARS, Molecular Adsorbents Recirculating System). MARS dialysis decreased serum bilirubin levels by more than 60 % and effectively lowered serum bile acid levels by 45 %. The course of serum parameters was accompanied by a dramatic clinical improvement of the patients symptoms (pruritus, jaundice, fatigue etc.). MARS therapy appeared to shorten the duration of the cholestatic attack.
 ...
PMID:Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). 1621 86

Cholestatic syndromes are inborn or acquired disorders of bile formation. In recent years, several inherited cholestatic syndromes were characterized at the molecular level: progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC). Both PFIC and BRIC were divided phenotypically in distinct subtypes; however, at the genotype level, these clinical entities overlap. PFIC starts in early childhood and progresses toward liver cirrhosis, which often requires liver transplantation within the first decade of life. The diagnosis of PFIC is usually made on the basis of clinical and laboratory findings but needs to be confirmed by genetic and histological analysis. Only recently was it recognized that BRIC, which was estimated as a milder form of PFIC-1, may be caused by more than one gene.
 ...
PMID:Inborn errors of biliary canalicular transport systems. 1639 70

Definitive medical treatment for benign recurrent intrahepatic cholestasis (BRIC) is not available and the significance of surgical treatment is a matter of debate. It has been postulated that BRIC may progress to progressive familial intrahepatic cholestasis (PFIC), which leads to liver insufficiency and cirrhosis. External biliary diversion represents an option for both conditions and we recently introduced a new laparoscopic technique for infants with PFIC. However, limited umbilical incision may interfere with creating a jejunal conduit by infraumbilical exteriorisation, in particular in obese adolescents. Therefore, we modified our technique by exteriorising a small bowel loop via the right midabdominal trocar incision at the position of the jejunostomy. The technique was used in a 17-year-old obese patient with BRIC. This is the first report on a patient with BRIC undergoing laparoscopic external biliary diversion.
 ...
PMID:Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. 1673 28

Progressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP, ABCB11) gene; however, their prognosis differs. PFIC2 progresses to cirrhosis and requires liver transplantation, whereas BRIC2 is clinically benign. To identify the molecular mechanism(s) responsible for the phenotypic differences, eight PFIC2 and two BRIC2 mutations were introduced in rat Bsep, which was transfected in MDCK II cells. Taurocholate transport activity, protein expression, and subcellular distribution of these mutant proteins were studied in a polarized MDCK II monolayer. The taurocholate transport activity was approximately half of the wild-type (WT) in BRIC2 mutants (A570T and R1050C), was substantially less in two PFIC2 mutants (D482G and E297G), and was almost abolished in six other PFIC2 mutants (K461E, G982R, R1153C, R1268Q, 3767-3768insC, and R1057X). Bsep protein expression levels correlated closely with transport activity, except for R1057X. The half-life of the D482G mutant was shorter than that of the WT (1.35 h vs. 3.49 h in the mature form). BRIC2 mutants and three PFIC mutants (D482G, E297G, and R1057X) were predominantly distributed in the apical membrane. The other PFIC2 mutants remained intracellular. The R1057X mutant protein was stably expressed and trafficked to the apical membrane, suggesting that the COOH-terminal tail is required for transport activity but not for correct targeting. In conclusion, taurocholate transport function was impaired in proportion to rapid degradation of Bsep protein in the mutants, which were aligned in the following order: A570T and R1050C > D482G > E297G > K461E, G982R, R1153C, R1268Q, 3767-3768insC, and R1057X. These results may explain the phenotypic difference between BRIC2 and PFIC2.
 ...
PMID:Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. 1794 49

Severe intrahepatic cholestasis with low serum gamma-glutamyltranspeptidase (gamma-GT) activity is exceptionally rare in adult patients, and its association with multi-genetic alterations of bile salt transporters has not been reported. We investigated a 25-year-old man presenting with a four-year history of jaundice. Laboratory and radiographic examinations revealed clinical pictures of progressive intrahepatic cholestasis with low gamma-GT. Serial liver histopathology demonstrated cirrhosis resulting from progressive persistent cholestatic injury. Genetic sequencing studies for the entire coding exons of ATP8B1 and ABCB11 uncovered a heterozygous missense mutation 1798 C->T (R600W) in ATP8B1, and a homozygous nucleotide substitution 1331 T->C (V444A) in ABCB11. In conclusion, this is a rare case of adult onset progressive intrahepatic cholestasis with low gamma-GT associated with heterozygous ATP8B1 mutation and homozygous ABCB11 polymorphism. Further studies are necessary to investigate the impact of heterozygous R600W mutation and whether other cholestatic disorders are multi-genetic.
 ...
PMID:Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11. 1926 Sep 95

We studied histological features and long-term outcomes in patients with progressive familial intrahepatic cholestasis type 1 (PFIC1) after liver transplantation (LT). Histological findings were correlated with the post-LT course and treatment in 11 recipients with PFIC1. Ages at LT varied from 1 to 18 years (median, 4 years). Macrovesicular steatosis was observed in 8 patients at a median of 60 days post-LT (range, 21-191 days). Severe steatosis progressed to steatohepatitis in 7 patients at a median of 161 days (range, 116-932 days). The patients were followed up for a median of 7.3 years (range, 2.3-16.1 years). Six showed bridging fibrosis, with 2 progressing to cirrhosis. One patient with cirrhosis died because of the rupture of a splenic artery aneurysm 13.6 years post-LT. Post-LT refractory diarrhea was present in all 8 having steatosis. Three without post-LT diarrhea showed no allograft steatosis. Bile adsorptive resin therapy reduced the diarrhea and steatosis. Patients with posttransplant steatosis typically had more severe mutations of the ATPase class I type 8B member 1 (ATP8B1) gene and were more likely to have systemic complications such as pancreatitis. In conclusion, allograft steatosis was present in patients with PFIC1, progressing to steatohepatitis and cirrhosis. Because expression of the familial intrahepatic cholestasis 1 gene occurs in several organs, including the small intestine, pancreas, and liver, and it is involved in enterohepatic bile acid circulation, post-LT steatosis may be due to a malfunction of the ATP8B1 product.
 ...
PMID:Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. 1947 88


1 2 3 Next >>