Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic hepatitis B is a widespread viral illness with the serious sequelae of cirrhosis and hepatocellular carcinoma. Current therapy with interferon is not universally efficacious, and this has led to the evaluation of other antiviral agents. A recent Phase II trial of the nucleoside analogue, fluoroiodoarabinofuranosyluracil (fialuridine, FIAU) was halted because of the sudden development of severe multisystem toxicity characterized by hepatic failure, lactic acidosis, and pancreatitis, which resulted in the deaths of five patients. We systematically evaluated pre- and post-therapy biopsy, explant, and autopsy specimens from the 15 patients involved in this trial to define the hepatic changes of fialuridine toxicity and to determine whether the degree of pre-existing hepatitis contributed to the severity of toxicity. Severe hepatotoxicity from fialuridine was characterized by hepatomegaly with diffuse, predominantly microvesicular steatosis, hepatocellular glycogen depletion, marked bile ductular proliferation, and cholestasis. Ultrastructural examination revealed intracytoplasmic lipid droplets and marked mitochondrial injury. Patients in whom severe toxicity did not develop mainly showed changes caused by the underlying chronic hepatitis B alone. There was a subtle increase in the amount of microvesicular steatosis in two of six patients with mild or no symptoms of toxicity. The microscopic and ultrastructural pattern of injury and systemic symptoms in patients with fialuridine toxicity are consistent with severe mitochondrial and metabolic derangements. Similar hepatic pathologic findings have been reported rarely for other antiviral nucleoside analogues, which suggests that the mechanisms of toxicity might be related.
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PMID:Histopathologic changes associated with fialuridine hepatotoxicity. 907 26

In primary amyloidosis the gastrointestinal tract and the liver are commonly involved, but clinical features and prognosis are mainly determined by the extent of cardiac and renal involvement. We review two cases with primary amyloidosis of the gastrointestinal tract and the liver. The predominant symptoms were malabsorption and hepatomegaly with cholestasis. The clinical aspects, diagnosis, treatment and prognosis of primary amyloidosis of the gastrointestinal tract and the liver are discussed in the context of the current literature.
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PMID:[Primary amyloidosis of the gastrointestinal tract and liver--two case reports]. 916 26

Although the involvement of the liver is common in systemic amyloidosis (AL), clinical features of hepatic dysfunction and liver chemistry abnormalities are often mild or absent. A mild increase in the serum alkaline phosphatase value is the most common finding. Hypertransaminasemia, hyperbilirubinemia, and portal hypertension with ascites and gastroesophageal varices occur late in the course of the disease and predict a short survival. We describe the case of a 58-year-old woman with AL, whose dramatic and unusual clinical picture, consisting of giant hepatomegaly, hypertransaminasemia, increase in alkaline phosphatase, esophageal varices, and ascites, was rapidly complicated by severe obstructive cholestasis.
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PMID:Primary systemic amyloidosis with giant hepatomegaly and a swiftly progressive course. 917 38

A 35-yr-old female presented with symptoms of obstructive jaundice. Liver biopsy, bone marrow aspiration, and biopsy revealed systemic mastocytosis and acute myeloid leukemia. The liver biopsy specimen showed infiltration of mast cells within portal tracts with periductal and portal edema, irregularity of interlobular duct epithelium, and centrizonal cholestasis. Endoscopic retrograde cholangiography was normal. Following chemotherapy treatment with idarubicin and cytarabine for seven days for AML, the bilirubin levels continued to increase for two weeks and then decreased, reaching normal levels in two months. Infiltration of mast cells in the liver leads to hepatomegaly, liver function abnormality and rarely portal hypertension. Intrahepatic cholestasis due to systemic mastocytosis has never been reported. We report a rare case of systemic mastocytosis causing intrahepatic cholestasis that resolved with remission of AML following chemotherapy.
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PMID:Intrahepatic cholestasis due to systemic mastocytosis: a case report and review of literature. 921 99

Liver involvement manifesting as hepatomegaly in Langerhans cell granulomatosis (LCG) is well known, but the definitive diagnosis is generally possible because other organs are involved. We report a 41-year-old white man who presented with cholestasis and liver nodules as an isolated hepatic LCG. The diagnosis of LCG was suspected based on routine histopathologic examination; the diagnosis became definitive 4 years later when Birbeck granules were found in the liver, an uncommon occurrence in this organ. This is an unusual presentation of a benign form of this disease and one of the first that reported Birbeck granules in the liver.
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PMID:Hepatic nodules as single organ involvement in an adult with Langerhans cell granulomatosis. A case report. 949 69

A 27-year-old woman with chronic renal failure, who had been treated with chronic ambulatory peritoneal dialysis and had developed sclerosing peritonitis, was admitted to the hospital with intra-abdominal sepsis. In spite of antibiotic therapy, sepsis recurred and was associated with intrahepatic cholestasis. In addition, over a period of about 4.5 weeks she developed hepatomegaly and portal hypertension unassociated with occlusion of the portal vein or one of its main extrahepatic branches. A wedge biopsy of the liver revealed extensive thick fibrosis of the liver capsule, intrahepatic cholestasis, diffuse swelling of hepatocytes, central veins that were difficult to visualize and small portal tracts. It is suggested that the sepsis was responsible for the intrahepatic cholestasis, swelling of hepatocytes and hepatomegaly. It is also suggested that the rigidity of the fibrotic liver capsule provided resistance to the development of hepatomegaly, with the result that intrahepatic pressure increased (compressing intrahepatic branches of the portal vein as well as portal tracts and central veins) and portal hypertension developed.
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PMID:Sclerosing peritonitis complicated by sepsis: a potential cause of portal hypertension. 951 60

We report the case of a middle-aged woman presenting epigastric discomfort, hepatomegaly, biochemical signs of cholestasis, bone marrow plasmocytosis and Bence Jones proteinuria. Percutaneous liver biopsy disclosed kappa light chain deposition disease of the liver and fine needle aspiration of abdominal fat showed amyloid substance. Renal blood chemistries and urinalysis were repeatedly normal. To our knowledge, this is the first reported case of kappa light chain deposition disease of the liver and concomitant amyloidosis without renal involvement as the first manifestation of plasma cell dyscrasia. This condition should be considered in the differential diagnosis of intrahepatic cholestatic liver disease.
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PMID:Kappa light chain deposition disease of the liver. 961 91

We studied, retrospectively, 92 children who were first seen with neonatal cholestasis and who were followed up until liver test results normalized. Among the 92 children, 81 displayed factors responsible for chronic and/or acute perinatal distress. Onset of jaundice was recorded at a mean age of 7 days, and mean duration was 3.5 months. Stools, initially discolored in 39 children, were normally colored at a mean age of 1.7 months. Hepatomegaly present in 90 children resolved at a mean age of 13 months. Liver test results were normal at the age of 1 year in 83 children and normalized at a mean age of 10 months. Liver histologic examination, performed in 70 children, showed moderate portal and lobular fibrosis, multinucleated giant hepatocytes, and hematopoietic foci; findings in follow-up liver biopsy specimens from 15 children were normal or improved. Spontaneously resolving forms of neonatal cholestasis may result from the association of several factors, including immaturity of bile secretion and perinatal disease leading to hepatic hypoxia or ischemia.
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PMID:Transient neonatal cholestasis: origin and outcome. 1035 58

In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57 are still living. Including 47 siblings who died early in infancy, in total 97 patients died, of whom 30% died within the first week of life and 69% before 1 year. Twenty-eight patients presented in the neonatal period with sudden death, heart beat disorders, or neurological distress with various metabolic disturbances. Hepatic presentations were observed in 73% of patients (steatosis, hypoketotic hypoglycaemia, hepatomegaly, Reye syndrome). True hepatic failure was rare (10%); cholestasis was observed in one patient with LCHAD deficiency. Cardiac presentations were observed in 51% of patients: 67% patients presented with cardiomyopathy, mostly hypertrophic, and 47% of patients had heart beat disorders with various conduction abnormalities and arrhythmias responsible for collapse, near-miss and sudden unexpected death. All enzymatic blocks affecting FAO except CPT I and MCAD were found associated with cardiac signs. Muscular signs were observed in 51% of patients (of whom 64% had myalgias or paroxysmal myoglobinuria, and 29% had progressive proximal myopathy). Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. The diagnosis of FAO disorders is generally based on the plasma acylcarnitine profile determined by FAB-MS/MS from simple blood spots collected on a Guthrie card. Urinary organic acid profile and total and free plasma carnitine can also be very helpful, mostly in acute attacks. If there is no significant disturbance between attacks, the diagnosis is based upon a long-chain fatty acid loading test, fasting test, and in vitro studies of fatty acid oxidation on fresh lymphocytes or cultured fibroblasts. Treatment includes avoiding fasting or catabolism, suppressing lipolysis, and carnitine supplementation. The long-term dietary therapy aims to prevent periods of fasting and restrict long-chain fatty acid intake with supplementation of medium-chain triglycerides. Despite these therapeutic measures, the long-term prognosis remains uncertain.
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PMID:Recognition and management of fatty acid oxidation defects: a series of 107 patients. 1040 81

Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation and severe pruritus. Laboratory tests demonstrate elevated bilirubin and bile acids, without an increase in serum gamma-glutamyl-transpeptidase or cholesterol. This study was performed to evaluate our experience with medical therapy as well as two types of surgical treatment used in children with PFIC, particularly partial external biliary diversion (PEBD) as an alternative method of therapy to liver transplantation (OLTx). Between 1979 and 1998 we have treated 46 children with PFIC (27 boys and 19 girls), aged 10 months to 19 yr (at the time of this study). Medical treatment with ursodeoxycholic (UDCA) was used in 39 patients for the period between 6 and 82 months. PEBD (cholecysto-jejuno-cutaneostomy) was performed in 16 patients, OLTx in eight children (including one after unsuccessful PEBD). Retrospective analysis of the clinical course and selected laboratory tests (bilirubin, ASPAT, ALAT, bile acids), and histopathological examinations were performed. Results of treatment were assessed by means of influence of the type of treatment on clinical symptoms, laboratory tests, progress of liver cirrhosis and hepatic failure, as well as physical development and survival. Medical therapy was effective in the long term in four (10%) of the patients resulting in clinical and biochemical normalization. Both surgical methods of therapy of PFIC, PEBD and OLTx, resulted in an 80% success rate and therefore should be used as complementary therapies. In patients before established liver cirrhosis, PEBD should be the first choice of treatment. Patients presenting with cirrhosis or after ineffective PEBD should qualify for OLTx. With this strategy most children with PIFC can be cured.
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PMID:Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. 1048 83


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