1/31. Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis.Two patients presented with neonatal cholestasis and acholic stools as first manifestations of McCune-Albright syndrome. Both went through an extensive evaluation including an exploratory laparotomy with peroperative cholangiography which ruled out biliary atresia. One patient presented from the fourth month of life with the classical cafe-au-lait spots following Blaschko's lines, while less classical cafe-au-lait spots were seen in the second patient at the age of 4 years. Bone lesions were seen in one patient at the age of 2.5 years and in the other at the age of 4 years. Despite the severity of presentation, both patients cleared their jaundice within 6 months, but still had mild abnormalities of liver function tests. Both patients showed an activating mutation of codon 201 in the gene encoding the alpha-subunit of the G-protein that stimulates adenylcyclase in liver tissue, suggesting that this metabolic defect could be responsible for the cholestatic syndrome. Similar mutations have been found in other affected tissues in patients with the McCune-Albright syndrome. We propose that McCune-Albright syndrome be included in the list for differential diagnosis of neonatal cholestasis and chronic cholestasis of infancy, as a rare cause.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/31. Fibrosing cholestatic hepatitis: a report of three cases.Fibrosing cholestatic hepatitis is an aggressive and usually fatal form of viral hepatitis in immunosuppressed patients. We report three cases of fibrosing cholestatic hepatitis in various clinical situations. Case 1 was a 50-year-old man who underwent a liver transplant for hepatitis b virus (HBV)-associated liver cirrhosis. Two and a half years after the transplant, he complained of fever and jaundice, and liver enzymes were slightly elevated. serum HBsAg was positive. Case 2 was a 30-year-old man in an immunosuppressed state after chemotherapy for acute lymphoblastic leukemia. He was a HBV carrier. Liver enzymes and total bilirubin were markedly elevated. Case 3 was a 50-year-old man who underwent renal transplantation as a known HBV carrier. One year after the transplant, jaundice developed abruptly, but liver enzymes were not significantly elevated. Microscopically lobules were markedly disarrayed, showing ballooning degeneration of hepatocytes, prominent pericellular fibrosis, and marked canalicular or intracytoplasmic cholestasis. Portal inflammation was mild, but interphase activity was definite and cholangiolar proliferation was prominent. hepatocytes were diffusely positive for HBsAg and HBcAg in various patterns. patients died of liver failure within 1 to 3 months after liver biopsy in spite of anti-viral treatment.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/31. Multidisciplinary approach to palliation of obstructive jaundice caused by a central hepatocellular carcinoma.BACKGROUND/AIMS: Obstructive jaundice due to intraductal tumour growth is a rare symptom in association with hepatocellular carcinoma (HCC). methods: We report a 65-year-old white male who was admitted to our department with a 2-week history of progressive jaundice. At laparotomy, the liver showed advanced cirrhosis due to long-standing biliary obstruction. cholangiography confirmed total obstruction of the main bifurcation of the hepatic duct by intraductal tumour growth. Combination treatment with surgical segment III drainage, transcatheter arterial embolization and radioembolization with yttrium-90 resin particles and endoscopic stenting was performed. This form of treatment has never been reported before. RESULTS: With these combined procedures, relief of jaundice and a survival time of 32 months could be achieved. CONCLUSION: The combination of palliative methods may relieve jaundice, ensure a good quality of life and possibly prolong survival in patients with mechanical tumour obstruction of the biliary tree by HCC.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/31. Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?MDR3 p-glycoprotein mediates canalicular phospholipid transport in hepatocytes. Defects in the MDR3 gene have been found to cause a subtype of progressive familial intrahepatic cholestasis (PFIC) with high gamma-glutamyltranspeptidase (GGT) levels. Affected children develop proliferation of biliary epithelium, portal inflammation, and biliary cirrhosis. The frequency of MDR3 mutations in patients with high GGT-PFIC is unclear. There have been no Asian patients reported to carry MDR3 mutations. To determine the role of MDR3 defects in chronic cholestatic patients, we studied six Taiwanese children from five families who presented high GGT-PFIC among 47 patients with infantile onset chronic intrahepatic cholestasis. sequence analysis of MDR3 cDNA from liver tissues was performed. Only one patient had mutation in the MDR3 gene. This patient had a homozygous 719-bp deletion (nucleotide 287 to 1005) of liver cDNA encompassing exon 5 to 9 and leading to protein truncation. The onset age was 1 y in contrast with the other five patients who presented neonatal cholestasis. Four patients without mutation, including one sibling pair, exhibited histologic features of prominent portal fibrosis leading to advanced biliary cirrhosis that were indistinguishable from the case of MDR3 mutation. We concluded that mutations in MDR3 accounted for approximately 2% (1/47) of infantile onset chronic cholestasis in taiwan. Those patients presenting high GGT-PFIC with early onset cholestasis but without MDR3 mutation probably had inheritable disorders remaining to be clarified.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/31. jaundice in non-cirrhotic primary biliary cirrhosis: the premature ductopenic variant.The clinical and pathological findings of four females with primary biliary cirrhosis (PBC) with an unusual and hitherto not well recognised course are reported. patients suffered severe pruritus and weight loss with progressive icteric cholestasis which did not respond to such treatments as ursodeoxycholic acid and immunosuppressives. In all cases liver histology revealed marked bile duct loss without however significant fibrosis or cirrhosis. Further diagnostic studies and repeat biopsies confirmed the absence of liver cirrhosis as well as other potential causes of hyperbilirubinaemia. Comparison of the fibrosis-ductopenia relationship for our cases with that for a group of 101 non-cirrhotic PBC patients indicated that in the former the severity of bile duct loss relative to the amount of fibrosis was significantly higher. The proportion of portal triads containing an interlobular bile duct was 3%, 4%, 6%, and 10% compared with 45% (median; range 8.3--100%) for controls (p<0.001). Three patients received a liver transplant 6--7 years after the first manifestation of PBC because of progressive cholestasis, refractory pruritus, and weight loss, while the fourth patient is considering this option. In one case cirrhosis had developed at the time of transplantation while the others still had non-cirrhotic disease. These cases suggest that cholestatic jaundice in non-cirrhotic PBC may be secondary to extensive "premature" or accelerated intrahepatic bile duct loss. Although the extent of fibrosis may be limited initially, progression to cirrhosis appears to be inevitable in the long run. Despite intact protein synthesis and absence of cirrhotic complications, liver transplantation in the pre-cirrhotic stage for preventing malnutrition and to improve quality of life should be considered for these patients.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/31. 3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment.The aim of this study was to evaluate the effects of bile acid treatment and to obtain further information about the pathway of bile acid biosynthesis in a patient with 3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase (3beta-HSD) deficiency by gas chromatography-mass spectrometry. Results showed that at 2 months of age, 3beta-hydroxy-5-cholen-24-oic acid (3.0 micromol/mmol Cr, 7.9%) was detected in the urine in essentially the same relative amount as 3beta,7alpha-dihydroxy- and 3beta,7alpha,12alpha-trihydroxy-5-cholen-24-oic acids (3.7 micromol/mmol Cr, 9.8%) during ursodeoxycholic acid treatment combined with prednisolone. As a result, diagnosis was delayed until 18 months of age. One month later with substitution of chenodeoxycholic acid treatment, urinary 3beta,7alpha-dihydroxy- and 3beta,7alpha,12alpha-trihydroxy-5-cholen-24-oic acids decreased significantly, and subsequent improvement of liver dysfunction was accelerated. chenodeoxycholic acid treatment is useful in 3beta-HSD deficiency. However, in the diagnosis of this disease in early life, it should be noted that the acidic pathway may be the major route for bile acid biosynthesis in the neonatal period. diagnosis of 3beta-HSD deficiency may have been delayed by administration of ursodeoxycholic acid, resulting in prolonged diagnostic investigation in this child with cholestasis. Further, use of prednisolone may have been contraindicated.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/31. Left hepatectomy for the choledochal cyst (type IV-A) with intrahepatic stenosis: report of a case.The case of a 16-year-old male with expansion of the gallbladder and dilatation of the common bile duct is reported. ultrasonography and computed tomography imaging showed expansion of the gallbladder and eminent cystic dilatation in the common bile duct and the left intrahepatic bile duct. Endoscopic retrograde cholangiopancreatography indicated expansion-like beads of the bilateral hepatic ductus and the left intrahepatic bile duct, including anomalies of the pancreaticobiliary ductal junction. Because relative stenosis of the membranous diaphragm was revealed in the porta hepatis, we diagnosed this case as a type IV-A choledochal cyst, using Todani's classification. Intraoperative cholangiography and cholangiofiberscopy showed a pinhole stricture and re-expansion of the tip of the left intrahepatic bile duct. As the narrow segment could not be expanded though we put proper pressure there, left hepatectomy was performed as a preventive measure in addition to extended biliary tract excision and cholangiojejunostomy. hepatectomy seems to be an appropriate choice in a case of intrahepatic stenosis to help increase the patient's postoperative quality of life.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/31. Byler disease associated with acute cholecystitis.A case of Byler disease, which has a rare incidence of l in 90000, is reported. A 21-year-old woman known to have the disease since childhood presented with acute cholecystitis and underwent laparoscopic cholecystectomy. To the best of our knowledge, after a review of the English literature, this is the second patient with Byler disease to live beyond the second decade of life since the disorder was first described by Clayton 30 years ago, and the first case associated with acute cholecystitis that was managed successfully by laparoscopic cholecystectomy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/31. Preliminary observation with dronabinol in patients with intractable pruritus secondary to cholestatic liver disease.pruritus due to cholestatic liver disease can be particularly difficult to manage and frequently is intractable to a variety of medical therapies. The aim of our study is to evaluate the efficacy of delta-9-tetrahydrocannabinol (delta-9-THC) for intractable cholestatic related pruritus (ICRP) that has failed conventional (and unconventional) remedies. Three patients were evaluated for plasmapheresis because of ICRP. All 3 patients had previously been extensively treated with standard therapies for ICRP including: diphenhydramine, chlorpheniramine, cholestyramine, rifampicin, phenobarbital, doxepin, naltrexone, UV therapy, and topical lotions. Even multiple courses of plasmapheresis were performed without any benefit for the intractable pruritus. All patients reported significant decreases in their quality of life, including lack of sleep, depression, inability to work, and suicidal ideations. All patients were started on 5 mg of delta-9-THC (Marinol) at bedtime. All 3 patients reported a decrease in pruritus, marked improvement in sleep, and eventually were able to return to work. Resolution of depression occurred in two of three. Side effects related to the drug include one patient experiencing a disturbance in coordination. Marinol dosage was decreased to 2.5 mg in this patient with resolution of symptoms. The duration of antipruritic effect is approximately 4-6 hrs in all three patients suggesting the need for more frequent dosing. Delta-9-tetrahydrocannabinol may be an effective alternative in patients with intractable cholestatic pruritus.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/31. Three cases of severe acute hepatitis after parenteral administration of amiodarone: the active ingredient is not the only agent responsible for hepatotoxicity.amiodarone is one of the most effective antiarrhythmic drugs available and is widely prescribed despite several potentially life-threatening side-effects. Hepatotoxicity is the most frequent one during long-term oral therapy: occasionally acute hepatitis necessitates the suspension of treatment but monitoring of a transient increase in serum aminotransferases is usually sufficient; the clinical-morphological pictures of liver cirrhosis have also been reported. Fulminant hepatitis soon after a parenteral load of the drug is far less well described in the literature. Most published cases were reversible after the suspension of treatment. A negative challenge after oral amiodarone exposure suggested that polysorbate 80, a solvent added to the intravenous infusion and already implied in the pathogenesis of a similar syndrome observed in infants, is a more likely cause of this complication. The occurrence of acute hepatitis complicating parenteral amiodarone treatment does not preclude subsequent oral use of the drug: an evidence-based therapeutic behavior now definitively consolidated. Because of the rarity of this diagnosis, we report 3 cases of short-term hepatotoxicity secondary to amiodarone treatment for supraventricular tachyarrhythmias: in 2 male patients with dilated cardiomyopathy and in a female with liver disease. The diagnosis was presumptive and based on a thorough drug history, the temporal relationship, the time-course of liver dysfunction, the exclusion of other causes and on the rapid improvement observed after parenteral amiodarone withdrawal in 2 cases; in no case could we find any other explanation for the liver damage. Since amiodarone is sometimes still an irreplaceable antiarrhythmic drug, we raise the question of whether careful and continuous vigilance should be mandatory in patients receiving the drug or whether it is possible to introduce a pharmaceutical preparation not containing the vehicle that induces acute liver toxicity.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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