Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 40-years-old female patient with recurrent cholestatic liver disease who presented twice with severe intrahepatic cholestasis of pregnancy and pronounced choledocholithiasis between pregnancies. Bile duct stones were removed endoscopically and a laparoscopic cholecystectomy was performed after the second pregnancy. Liver histology revealed intrahepatic cholestasis with portal inflammation and fibrosis, resembling progressive familial intrahepatic cholestasis (PFIC). Molecular genetic studies identified the heterozygous mutation c.957C > T in the ABCB4 gene encoding the hepatobiliary phospholipid transporter. This is the first report of this mutation that introduces a stop codon in an index patient with intrahepatic cholestasis of pregnancy and multiple bile duct stones. In addition, we detected the ABCB11 polymorphism V 444A, which is associated with a decreased expression of the bile salt export pump. Whereas homozygous carriers of the ABCB4 mutation develop PFIC type 3, the heterozygous ABC transporter mutations represent genetic risk factors for cholelithiasis and recurrent cholestatic hepatitis upon challenge with oral contraceptives or during pregnancy. Of note, the patient presented with normal serum gamma-glutamyltranspeptidase activities during pregnancy-associated cholestatic episodes but normal liver enzymes after delivery, whereas choledocholithiasis was associated with high gamma-glutamyl transpeptidase levels. It is unknown whether ursodeoxycholic acid prevents cholestasis or gallstones in patients with ABCB4 deficiency.
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PMID:[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]. 1818 16

The initial discovery that the human stomach is commonly infected by the bacterium Helicobacter pylori subsequently resulted in the identification of a whole new family of pathogenic bacteria. In less than 25 years, the Helicobacter genus has grown from obscurity to number at least 38 different species with many more awaiting classifications. These bacteria, many of which are either direct or opportunistic pathogens, are present in virtually every mammalian species examined, and have also now been identified in a number of birds. The pathogenesis associated with these infections is predominantly the result of a chronic inflammatory response mounted by the host against the infection. This is typically a Th1-driven response which can result in a range of conditions from hepatitis, through gallstones to cancer. In some cases the inflammatory response to these infections is normally well managed by the host and disease only results when there is a breakdown or misbalance in the immunoregulatory process, which for example can result in inflammatory bowel disease in experimental models. Understanding the disease association and pathogenic mechanisms of the different Helicobacter infections is clearly of potential significance not only from an animal welfare point of view but also from the growing realisation of how commonly transmission of Helicobacter occurs between different mammals, including pathogenic zoonotic infections of humans.
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PMID:Immunogenicity and pathogenicity of Helicobacter infections of veterinary animals. 1824 38

An asymptomatic 70-year-old Hispanic woman with type 2 diabetes was found in 2004 to have an AST of 132 U/L, ALT 146 U/L, alkaline phosphatase 1107 U/L, total serum bilirubin 3.5 mg/dL, and albumin 2.9 g/dL. Viral hepatitis testing was negative. Serum IgG, IgA, and IgM were all elevated, antimitochondrial antibody was weakly positive, and antinuclear antibody was negative. Liver biopsy was reported to show "evolving cirrhosis with marked lymphoid hyperplasia." Although the indication was nowhere stated, she was prescribed ursodeoxycholic acid 500 mg b.i.d, on which her biochemical tests initially improved. One year later she developed itching and jaundice. Imaging studies revealed multiple gallstones. An MRCP was suggestive of cirrhosis with a questionable common bile duct stricture, and she underwent ERCP with removal of gallbladder and common bile duct stones and placement of a biliary stent. A periampullary mass, which proved to be a somatostatinoma, was excised in 2006 via an open laparotomy, at which the stent was removed and a second liver biopsy performed. It was reported as showing chronic active hepatitis, activity stage 2, and fibrosis grade 3 with bridging. Her subsequent course was complicated by recurrent bleeding from small bowel arteriovenous malformations. Seen for the first time at Columbia University Medical Center in January 2007, she complained of continuing pruritus. AST was 69 U/L, ALT 43 U/L, alkaline phosphatase 491 U/L, and total bilirubin 3.3 mg/dL. Serum albumin was 2.6 g/dL. Antinuclear antibodies, negative in 2004, were now positive at 1:320, and antimitochondrial M2 antibodies were strongly positive. Serum IgG and IgA, but NOT IgM, were elevated. Review of her outside liver biopsies revealed features of primary biliary cirrhosis (PBC) in the first, and of both PBC and autoimmune hepatitis (AIH) in the second. The patient exhibits an overlap syndrome, in which both histologic and serologic features of AIH evolved in a setting initially most suggestive of PBC alone. The phenomenon of autoimmune overlap syndromes is discussed.
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PMID:Evolution from primary biliary cirrhosis to primary biliary cirrhosis/autoimmune hepatitis overlap syndrome. 1829 83

We have adopted the clinical concept of gallstone hepatitis indicated by marked serum transaminase elevation due to an acute inflammatory liver cell necrosis in the early stages of gallstone impaction in the bile duct as clinical and biochemical criteria for identifying high-risk patients for acute cholangitis or bile duct stones causing symptoms (symptomatic bile duct stones, SBDS). One hundred and fifty-eight (80.2%) of 197 patients with acute gallstone disease and concomitant elevation of serum transaminase (gallstone hepatitis) underwent emergency treatment, either surgery (138 patients) or percutaneous transhepatic biliary drainage (PTBD)/endoscopic sphincterotomy (ES) (20 patients). One hundred and forty-two (89.9%) and 67 (42.4%) were confirmed to have SBDS and acute cholangitis, respectively, in the early stage of the disease. The majority of the patients who had no bile duct stones identified at surgery had either biliary pancreatitis or multiple small stones in the gallbladder. They were assumed to have migrating stones or false negative operative cholangiograms. In conclusion, gallstone hepatitis indicates that SBDS and acute cholangitis are probable, and facilitates rapid selection of patients for urgent biliary tract exploration in patients with acute gallstone disease.
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PMID:Biochemical prediction of acute cholangitis and symptomatic bile duct stones by gallstone hepatitis. 1861 73

Direct hyperbilirubinemia, may result from a variety of pathologies, including structural obstructions with biliary tract occlusions (as in cholelithiasis), infections (e.g. hepatitis) and genetic disorders (Rotor's and Dubin-Johnson's syndrome). One of the less common and probably more frequently underdiagnosed causes is benign recurrent intrahepatic cholestasis (BRIC). First described in 1959, BRIC was further classified into two subgroups which differ in their pathogenesis and clinical manifestation. Both BRIC types originate from impaired function bile salt excretion from hepatocytes to the canaliculi which is mediated by the bile salt export pump (BSEP) which is located on the hepatyocyte membrane, unevenly distributed within the membrane lipid bilayer. In BRIC type-I, a mutation impairs the asymmetrical distribution of BSEP. In BRIC type-II, a mutation occurs directly damaging the BSEP. Apart from cholestasis, clinical manifestations of BRIC type-I include extra-hepatic symptoms such as watery diarrhea, pancreatitis and hearing impairment. Patients with BRIC type-II present mainly with hepatobiliary disease such as colelithiasis. In the past, BRIC was conventionally considered to result in no more than canalicular cholestasis, however several reports have associated BRIC with fibrosis and porto-portal septa formation. Disease course may last between weeks and months, more common in females, at any age, and usually resolves spontaneously, although chronic liver disease has also been described. Treatment modalities range from expectant management, medication (cholestyramine, ursolit) or even surgery (biliary bypass/liver transplantation). This report describes a patient with BRIC type-II and reviews the relevant literature.
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PMID:[Benign recurrent intrahepatic cholestasis type-II--a rare cause of direct hyperbilirubinemia exacerbations with hepatic fibrosis]. 1877 Sep 56

The aim of this study was to identify the influence of HBV on gall bladder and to establish necessity and terms of preventive measures. For this reason we have examined 58 patients, passed through cholecystectomy and 142 patients with B hepatitis. Patients of this group were followed up during 18 months. In the first group presence HBsAg in the gall bladder tissue was identified using immunoferment analysis and immunofluorescent testing. In all cases the blood was tested for specific markers (HBsAg, Anti-HB-cor antibodies of G and M classes). In the second group 75 patients were investigated prospectively. Observation using ultrasound was performed to find out the changes of gall bladder and bile. In this group preventive measures against gallstone formation were performed. 67 patients were investigated retrospectively and prevention was not performed among them. In 10 cases of cholecystectomy (17,2%) out of 58, HBsAg in the gall bladder tissue was identified both, with immunoferment analysis and immunofluorescent testing. The ultrasound examination revealed morpho-functional changes of gall bladder and bile in the acute stage of hepatitis B and also in following period. There were no cases of development of gallstones in the group where preventive measures using dietary fiber-rich food "Margi" were conducted, in the second group, where such measures have not been performed, gallstones developed in 5 patients (7,46%) out of 67, during 6-18 months after the acute B hepatitis. This results allow us to conclude, that cholecystopathogenic influence of HBV leads to the morpho-functional changes of gall bladder. This fact must be assessed as a risk factor for development of cholelithiasis and confirms necessity of early longlasting preventive measures.
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PMID:[HBV as one of the causes for development of cholelithiasis]. 1935 22

We evaluated the prevalence and the risk factors for gallstone disease in patients with chronic hepatitis C infection. We investigated 453 consecutively admitted patients with chronic infection with hepatitis C virus (HCV) (cirrhosis excluded) and 879 patients without liver disease (October 2006-April 2007). Gallstone disease was diagnosed if gallstones were present at ultrasonography or if there had been a previous cholecystectomy. Variables evaluated were age, gender, gallstone heredity, body mass index, waist circumference, parity, serum lipids, fatty liver, arterial hypertension, diabetes mellitus and metabolic syndrome (International Diabetes Federation criteria). Informed consent was obtained from all patients. We found that 88 of 453 (19%) patients with chronic HCV hepatitis (age 50.1 +/- 11.7 years) and 153 of 879 (17%) controls (age 60.6 +/- 12.6 years) had gallstone disease (GD). Abdominal obesity (OR = 2.108, 95% CI 1.287-3.452) and steatosis (OR = 3.699, 95% CI 2.277-6.008) were risk factors for GD in HCV patients. Gallstone heredity, dyslipidaemia, type 2 diabetes mellitus and metabolic syndrome increased the risk for GD in controls vs HCV patients. Our study shows that even HCV patients with chronic hepatitis but not cirrhosis have an increased prevalence of gallstones. Compared with controls, gallstones are present in HCV patients at a younger age and are associated with central obesity and liver steatosis, but not with gallstone heredity, dyslipidaemia, diabetes mellitus or metabolic syndrome. Although we could not establish a temporal relationship, the association between HCV infection and gall stone disease is real and appears to be causally linked, at least in predisposed individuals (obese and with liver steatosis).
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PMID:Hepatitis C virus infection is a risk factor for gallstone disease: a prospective hospital-based study of patients with chronic viral C hepatitis. 1948 79

Diseases involving the hepatopancreatobiliary (HPB) system are frequently encountered in patients with inflammatory bowel disease (IBD). Hepatobiliary manifestations constitute some of the most common extraintestinal manifestations of IBD. They appear to occur with similar frequency in patients with Crohn's disease or ulcerative colitis. HPB manifestations may occur in following settings: 1) disease possibly associated with a shared pathogenetic mechanism with IBD including primary sclerosing cholangitis (PSC), small-duct PSC/pericholangitis and PSC/autoimmune hepatitis overlap, acute and chronic pancreatitis related to IBD; 2) diseases which parallel structural and physiological changes seen with IBD, including cholelithiasis, portal vein thrombosis, and hepatic abscess; and 3) diseases related to adverse effects associated with treatment of IBD, including drug-induced hepatitis, pancreatitis (purine-based agents), or liver cirrhosis (methotrexate), and reactivation of hepatitis B, and biologic agent-associated hepatosplenic lymphoma. Less common HPB manifestations that have been described in association with IBD include autoimmune pancreatitis (AIP), IgG4-associated cholangitis (IAC), primary biliary cirrhosis (PBC), fatty liver, granulomatous hepatitis, and amyloidosis. PSC is the most significant hepatobiliary manifestation associated with IBD and poses substantial challenges in management requiring a multidisciplinary approach. The natural disease course of PSC may progress to cirrhosis and ultimately require liver transplantation in spite of total proctocolectomy with ileal-pouch anal anastomosis. The association between AIP, IAC, and elevated serum IgG4 in patients with PSC is intriguing. The recently reported association between IAC and IBD may open the door to investigate these complex disorders. Further studies are warranted to help understand the pathogenesis of HPB manifestations associated with IBD, which would help clinicians better manage these patients. An interdisciplinary approach, involving gastroenterologists, hepatologists, and, in advanced cases, general, colorectal, and transplant surgeons is advocated.
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PMID:Hepatopancreatobiliary manifestations and complications associated with inflammatory bowel disease. 2019 12

Sickle cell disease (SCD) is an autosomal recessive abnormality of the beta-globin chain of hemoglobin (Hb), resulting in poorly deformable sickled cells that cause microvascular occlusion and hemolytic anemia. The spleen is almost always affected by SCD, with microinfarcts within the first 36 months of life resulting in splenic atrophy. Acute liver disorders causing right-sided abdominal pain include acute vaso-occlusive crisis, liver infarction, and acute hepatic crisis. Chronic liver disease might be due to hemosiderosis and hepatitis and possibly to SCD itself if small, clinically silent microvascular occlusions occur chronically. Black pigment gallstones caused by elevated bilirubin excretion are common. Their small size permits them to travel into the common bile duct but cause only low-grade obstruction, so hyperbilirubinemia rather than bile duct dilatation is typical. Whether cholecystectomy should be done in asymptomatic individuals is controversial. The most common laboratory abnormality is an elevation of unconjugated bilirubin level. Bilirubin and lactate dehydrogenase levels correlate with one another, suggesting that chronic hemolysis and ineffective erythropoiesis, rather than liver disease, are the sources of hyperbilirubinemia. Abdominal pain is very common in SCD and is usually due to sickling, which resolves with supportive care. Computed tomography scans might be ordered for severe or unremitting pain. The liver typically shows sickled erythrocytes and Kupffer cell enlargement acutely and hemosiderosis chronically. The safety of liver biopsies has been questioned, particularly during acute sickling crisis. Treatments include blood transfusions, exchange transfusions, iron-chelating agents, hydroxyurea, and allogeneic stem-cell transplantation.
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PMID:Gastrointestinal and hepatic complications of sickle cell disease. 2021 64

Numerous studies in recent years had proved pathogenetic correlation of the intestinal ecological community, not only with diseases of the gastrointestinal tract but also with diseases such as atherosclerosis and hypertension, urolithiasis and pyelonephritis, gallstones and hepatitis. In its role in maintaining homeostasis an intestinal microflora isn't inferior to any other vital organs. All this allowed to distinguish it as an independent body. Recently, as one of the most important factors for the development of dyslipidemia scientists consider breaking the functional state of the liver, as well as changes in blood lipid spectrum and disturbance of cholesterol metabolism begins at the level of the hepatocyte. However, in 2001, Carneiro de Moura proposed a theory of violation of the microbial community in the colon as one of the ways to lipid metabolism. By reducing the detoxification function of intestinal microflora associated with Microecological disorders of various origins, the first "hit" is to the host liver--is on one side. On the other--the vast majority of microorganisms are characterized by a pronounced ability of bile acids deconjugation, and therefore the increased reproduction in the ileum of bacteria (especially anaerobic, with enhanced activity against deconjugation activity to related bile acids) and the formation of toxic endogenous bile salts, acids are important prerequisites for the occurrence of violations of all functions of the liver, including the activities of Kupffer cells and the whole system of mononuclear macrophages. In this regard, the formation and progression of dyslipidemia, regardless of the target organ must be closely linked with the digestive tract by micro. Schematically it can be represented as follows: violation of microecology intestine --> accumulation of endotoxin in the gut --> entry of endotoxins in portal vein to the liver --> RES of liver cell damage --> strengthening the pathological effects of toxicants other (non-microbial) origin --> dysfunction of hepatocytes --> dislipoproteidemiya.
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PMID:[Intestinal dysbiosis and atherogenic dyslipidemia]. 2049 50


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