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)

Thirty six patients with culture-proven enteric fever and 15 patients of fever with etiology other than enteric fever as a control group were studied, with special reference to hepatic dysfunction and its relation to clinical features of the disease. Hepatomegaly was observed in 55% of enteric fever patients, and was slightly more common than splenomegaly (50%). Its incidence in typhoid fever (67%) was three times higher than in paratyphoid fever (22%). Hepatic dysfunction occurred in 55% of cases. Jaundice was noted in only 8% of the cases, whereas hyperbilirubinemia (serum bilirubin greater than 1.8 mg %) was present in 17%. Although hepatic manifestations of enteric fever were mild, a small but important group had sufficient hepatic involvement to mimick the clinical picture seen in viral hepatitis, amebic liver disease, and malaria with jaundice. It may be considered of clinical significance, since enteric hepatitis responds very well to specific therapy.
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PMID:The spectrum of hepatic injury in enteric fever. 312 48

Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 5-year-old boy who, following an acute febrile illness at 2 years of age, was first noted to have hepatomegaly with mildly elevated serum transaminase levels. Liver biopsy revealed hepatic fibrosis with periodic-acid Schiff-positive, diastase-resistant inclusions in hepatocytes and fibrillar inclusions characteristic of amylopectin by electron microscopy. Enzymatic assay revealed deficient hepatic branching enzyme activity with normal activity of glucose-6-phosphatase, debranching enzyme and phosphorylase activities. During the succeeding 3 years, he grew and developed normally with apparent resolution of any clinical evidence of liver disease and only intermittent elevation in serum transaminase levels associated with fever and prolonged fasting. Repeat liver biopsy at 4 years of age showed persistence of scattered hepatocellular periodic-acid Schiff-positive, diastase-resistant inclusions, but no progression of hepatic fibrosis in spite of persistent deficiency of hepatic branching enzyme activity. Skeletal muscle and skin fibroblasts from the patient also showed deficient enzyme activity. Skin fibroblasts from both parents exhibited half the normal control activity, suggesting a heterozygote state. This is the first documented patient with deficiency of branching enzyme but without evidence of progressive hepatic disease. This patient, coupled with reports of other patients with late onset hepatic or muscle disease with branching enzyme deficiency, suggests that the defect resulting in Type IV glycogen storage disease is more heterogenous and possibly more common than previously suspected.
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PMID:A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. 316 25

Amyloidosis is classified according to the distribution pattern of amyloid deposition sites and associated diseases. Hepatic amyloidosis is not infrequent, although rarely causes clinical liver disease. We report two cases of amyloidosis diagnosed by liver biopsy. One presented with symptoms related almost to the liver disease, such as jaundice, hepatomegaly and indigestion. Echocardiogram revealed hypertrophic cardiomyopathy, suggesting cardiac involvement of the amyloidosis. The patient died of hepatic failure. The other case was found in a patient with an end stage renal disease. Features of congestive heart failure in this case may reflect cardiac involvement. The pattern of hepatic amyloid deposition in both of these cases was diffuse perisinusoidal. The predominant intralobular deposition suggests that these are amyloidosis of the secondary type.
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PMID:Hepatic amyloidosis--two cases report. 326 63

In adult polycystic liver disease, the liver gradually enlarges as it is replaced by cysts. The disease rarely produces symptoms or complications. Liver cysts are thought to arise from aberrant embryonic intrahepatic bile ducts (Von Meyenburg's complexes). We present a case of adult polycystic liver disease with Von Meyenburg's complexes and unusually severe hepatomegaly (7.7 kg, 22,080 cm3). The autopsy prevalence of adult polycystic liver disease at UCLA Medical Center is 0.13%; 93% of these cases had polycystic kidney disease. Adult polycystic kidney disease had associated liver cysts in 45% of cases.
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PMID:Massive hepatomegaly in adult polycystic liver disease. 328 82

We present our experience with 18 pediatric patients with alpha 1-antitrypsin deficiency of the PiZZ phenotype. Fifteen patients (83%) presented with neonatal cholestatic jaundice at a mean age of 2 +/- 0.6 months (+/- S.D.). The male:female ratio was 15:3, indicating a male predominance. All metabolic, infectious and obstructive causes of jaundice were ruled out by appropriate tests in the patients with neonatal cholestasis. Liver biopsy in 14 patients with neonatal cholestasis showed a histological picture of cholestasis in all biopsies; neonatal giant cell hepatitis appeared in seven, increased fibrosis in appeared five and established liver cirrhosis appeared in two biopsies. Patients were followed for a mean of 3.7 +/- 2.4 years (+/- S.D.). Of the 15 patients with neonatal cholestasis, 3 under went liver transplantation because of decompensated liver cirrhosis at 3, 3 1/2 and 7 years. Two patients died at 4 months and 3 years from complications of liver cirrhosis. Of the remaining 10 patients, 3 had histological evidence of liver cirrhosis, and the remaining 7 patients continue to have enlarged liver and spleen with abnormal liver function tests. Of the three patients without history of neonatal cholestasis, only one had enlarged liver and spleen, and the remaining two are healthy with normal liver function tests. Our experience indicates serious liver disease is highly likely to develop in patients with PiZZ alpha 1-antitrypsin deficiency who present with neonatal cholestatic jaundice. Our experience differs from more recent reports on such patients.
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PMID:Liver disease in children with PiZZ alpha 1-antitrypsin deficiency. 328 87

A 36-year-old man in otherwise good general condition and with completely normal laboratory results suffered from right upper abdominal pain. Hepatomegaly was diagnosed as due to cystic liver disease after ultrasound, computed tomography and magnetic resonance imaging. Recurrent abdominal pain continued over several months. Open liver biopsy eventually revealed trabecular-tubular carcinoma (APUDoma). Silver reaction was positive in many tumour cells. Electronmicroscopy demonstrated membrane-bound granules typical for endocrine cells. Immunohistological examinations of various hormones and of neurone-specific enolase were negative, but repeatedly measured high serum levels of pancreatic polypeptide and of beta-HCG nonetheless suggested an endocrine tumour. This case demonstrates that nonparasitic cystic changes in the liver, especially multiple ones, should have a firm diagnosis established by invasive means. Endocrine tumours can be mistaken for polycystic liver disease.
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PMID:[Liver apudoma simulating cystic liver]. 331 78

To determine the incidence of common-bile-duct lesions and their relation to liver disease in cystic fibrosis, we performed hepatobiliary scanning in 50 of 61 patients with cystic fibrosis who had hepatomegaly, abnormal liver function, or both and in 31 of 92 patients with cystic fibrosis who did not have hepatomegaly or abnormal liver function. Ninety-six percent of the patients with liver disease had evidence of biliary tract obstruction, which was defined cholangiographically as a stricture of the distal common bile duct in the majority of cases. All the patients without liver disease had normal intrahepatic and common-duct excretion of tracer. Abdominal pain was significantly more common in patients with common-duct obstruction (P less than 0.001), and enlarged gallbladders occurred only in such patients. Since fasting levels of serum bile acids were elevated in nearly half these patients, irrespective of the severity of their liver disease, serum bile acids may be markers of the severity of the common-duct lesion. We conclude that strictures of the distal common bile duct are common in patients with cystic fibrosis and liver disease. This association requires further study, since surgical relief of common-duct obstruction may prevent or ameliorate the hepatic complications of cystic fibrosis.
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PMID:Liver disease and common-bile-duct stenosis in cystic fibrosis. 334 Jan 4

The antiarrhythmic agent amiodarone is associated with numerous adverse effects, but clinically significant liver disease is rare. A patient is described who presented with muscle weakness, hepatomegaly, and ascites following 28 months of amiodarone usage. His condition deteriorated despite discontinuation of amiodarone therapy. A postmortem liver biopsy demonstrated necrosis, fibrosis, hyalin, and phospholipid-laden lysosomal lamellar bodies. Resolution of hepatic dysfunction may not necessarily occur on withdrawal of amiodarone if irreversible damage is already established. We speculate as to the reasons for the reportedly low incidence of overt liver disease, and suggest that hepatic enzyme levels, as well as other indicators of hepatic function, such as the serum albumin concentration, be monitored indefinitely in all patients while taking amiodarone.
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PMID:Fatal amiodarone hepatoxicity. 334 40

Fifty-one asymptomatic Chinese hepatitis B surface antigen (HBsAg) carrier children (34 boys, 17 girls), age 1 to 15 years (median: 10 years), were prospectively followed for up to 4 years (median: 30 months) to determine the natural evolution of clinical, biochemical and virological features during the early phase of chronic hepatitis B virus infection. Hepatomegaly was the only abnormal finding on examination, being present in five children initially and four at follow-up. Serum ALT levels were normal in 80% of the children at presentation and remained within the normal range during the study in 60%. Fluctuations in ALT levels were mild. In four of 12 instances, transient elevations in ALT levels were associated with a fall in serum hepatitis B virus DNA levels. At presentation, 43 (84%) children were hepatitis B e antigen (HBeAg) positive; only two (7%) cleared HBeAg on follow-up. None of the eight children who were initially positive for the antibody to HBeAg reverted back to HBeAg positivity. All the children remained HBsAg positive. In this study, we demonstrated that chronic hepatitis B virus infection in asymptomatic Chinese children is usually associated with a mild and stable liver disease despite high levels of hepatitis B virus replication. This may reflect an immunological tolerance to the hepatitis B virus induced by early exposure to the virus and accounts for the persistently high levels of hepatitis B virus replication on follow-up.
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PMID:A longitudinal follow-up of asymptomatic hepatitis B surface antigen-positive Chinese children. 341 35

One-hundred-and-ten children between the ages of two months and 14 years with the following liver diseases were studied: 16 with acute viral hepatitis, 8 with persistent chronic hepatitis, 31 with active chronic hepatitis, 5 with hepatic steatosis, 11 with cirrhosis of the liver, 24 with newborn cholestasis, 3 with Wilson's disease, 2 with congenital hepatic fibrosis, 5 with metabolic diseases and 5 due to other causes. These children presented Pi system phenotypes in isoelectric focus using ultrafine polyacrylamide gels according to Kuepper's method, with modifications incorporated to determine Alpha-1-antitrypsin (A1-AT) serum level deficiencies in those presenting the Pi ZZ phenotype, a liver biopsy with P.A.S. coloration on digestion of diastase and a family history of the phenotype. Four (3.6%) of the children with Pi ZZ phenotypes showed a decrease of serum A1-AT and the presence of positive P.A.S. inclusions resistant to diastase in the cytoplasm of hepatocytes. Three had a history of postnatal icterus and the fourth presented hepatomegaly. The phenotypic study of the parents showed their being heterozygous (MZ), while siblings were normal (MM). The importance of the diagnosis of A1-AT deficiency and the diagnostic value of detecting Pi system phenotypes in every case of liver disease in children and adolescents is stressed.
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PMID:[The value of the Pi system phenotype in alpha 1-antitrypsin deficiency]. 349 88


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