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)

A fatal case of systemic carnitine deficiency is reported. The patient suffered from slowly progressive muscle weakness since early childhood. After the age of 17 years her weakness progressed more rapidly until her death at the age of 20. A pregnancy during the last year of the patient's life was followed by rapid deterioration in her condition. An episode of renal insufficiency occurred at the age of 17 years and hepatomegaly, increased BSP dye retention and intermittent ketoacidosis were present during the last month of her life. Biopsy and autopsy specimens of muscle showed a lipid storage myopathy. Type 1 fibers were selectively severely affected, and many Type 1 fibers were atrophic. Abundant large mitochondria, some also containing abnormal inclusions, were also present in the muscle fibers. At autopsy there was marked accumulation of sudanophilic lipid deposits in all hepatocytes, in the renal tubular epithelial cells, and a patchy increase of lipid material was found in the myocardial fibers. There was marked carnitine deficiency in the patient's liver as well as muscel, while the carnitine palmityltransferase activities in these tissues were abnormally high. The basic metabolic abnormality is assumed to be a defect in carnitine biosynthesis.
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PMID:Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney. 18 38

At present Non-A and Non-B hepatitis disseminated from the intestine in the world is believed to have a better prognosis and has no chronicity. From 1980-1986, this hepatitis has occurred in the south of Xinjiang. It was sporadic (1980-1985) and there was an outbreak (1986). Our study indicated that the results from 500 cases followed up for two years were different from the literature reported. 1. Patients with hepatomegaly were 11.2% at 7th months, 12.8% at 19th months and 45.3% at 28th months. At the same time there were 3 cases of splenomegaly and spider in each of the 19th month and 28th month. 2. Liver function test showed that gamma-GTP, BSP and gamma-globulins rose in different degrees among the 3-7 month cases. Reexamined at 19th months, 3.6% cases of both ZTT and SGPT were high. General proteins of 8% patients dropped. In 42% of the patients the globulins rose and the album in dropped. 3. Biopsy of the liver after 28th months demonstrated that it was in agreement with the pathologic changes found in chronic lobule hepatitis of CPH under the light microscope and electron microscope.
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PMID:[Chronic process with Non-A and Non-B hepatitis disseminated from the intestine (appended 500 cases followed up for two years)]. 190 14

The indications for the use of laparoscopy have undergone a change in recent years due to the increasing application of the technique used in the liver biopsy by the Menghini method. It requires little equipment, is easily learned, and involves few risks. It has appeared through the development of reliable radiodiagnostic methods (coeliacography, splenoportography), nuclear medical methods (radio-BSP test, scintigraphy), and the application of ultrasonic examination. On the basis of 257 such operations performed from 1970 to 1972, a defined range of indication is shown for the use of this expensive equipment. It is considered justified in the diagnosis of liver cirrhosis, at the determination of the extent of cirrhosis complications, above all, in the preparation of a portocaval shunt operation, at the efferential diagnosis of jaundice, combined hepatosplenomegalia, and in the diagnosis of tumor or metastase-affected liver. Laparoscopy should be carried out only in the case of discrepancies between clinical and serochemical findings for the clarification of hepatomegaly and for liver-suspect serochemical findings.
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PMID:[Change of indication for laparoscopy]. 426 62

Twenty-five patients with enzymatically confirmed Gaucher disease were selected for study of hepatic complications of the disorder. Hepatomegaly was noted clinically and confirmed by radioisotopic scan in all but 1 patient. The majority had abnormalities of serum transaminase, alkaline phosphatase, and sulfobromophthalein (BSP) clearance. Three patients had evidence of portal hypertension. Light microscopic examination of liver showed some variation in the pattern of the disease. Gaucher cells were present in all specimens. In 5 patients the distribution was in scattered foci throughout the liver lobule. In 14 patients there was prominent centrilobular accumulation of Gaucher cells. Extensive replacement of liver by storage cells and cirrhosis was documented in 3 patients. No patient was found to have amyloid deposits. The severity of hepatic involvement correlated with the occurrence of other severe complications of the disorder. The wide range of liver abnormalities in Gaucher disease should be considered in evaluating patients for participation in experimental therapeutic trials.
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PMID:Gaucher disease: hepatic abnormalities in 25 patients. 712 31

Clinical and liver histopathological observations are described in 25 patients with Gaucher's disease. Although 24 patients had hepatomegaly, and the majority had abnormalities of serum transaminases, alkaline phosphatase, and BSP clearance, only 3 had evidence of portal hypertension and complications of advanced liver disease. Liver biopsies showed scattered foci of Gaucher cells in 5 patients and prominent centrilobular accumulation of Gaucher cells in 14 patients. Three patients had cirrhosis, which was associated with extensive replacement of the liver by storage cells. The severity of liver abnormalities correlated with the occurrence of other severe complications of Gaucher's disease. The wide spectrum of liver abnormalities in Gaucher's disease should be considered in evaluating trials of therapeutic enzyme replacement.
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PMID:LIver abnormalities in patients with Gaucher's disease. 745 Mar 98

Two 2-year-old Salers cattle from different herds raised on pasture were evaluated for retarded growth and diarrhea. Increase of liver enzyme activities and prolonged sulfobromophothalein (BSP) half life (T1/2) indicated liver disease with impaired liver function. Histopathologic examination of liver biopsies revealed a micronodular cirrhosis with marked deposition of hemosiderin in hepatocytes, Kupffer cells, and arterioles. Transferrin saturation (TS) and liver iron content were markedly increased, consistent with a diagnosis of hemochromatosis. Both animals were euthanatized due to deterioration in their condition. Necropsy findings included hepatomegaly and hemosiderin accumulation in the liver, lymph nodes, pancreas, spleen, thyroid, kidney, brain and other glandular tissue. Continued surveillance of the second herd (serum iron, total iron binding capacity [TIBC], unsaturated iron binding capacity [UIBC], and TS), identified a heifer as a hemochromatosis suspect in a subsequent generation. Liver biopsies from that animal revealed the same histopathologic changes as the previous 2 animals, and similar increases in liver iron content (8,700 ppm, normal range 45 to 300 ppm). The 3 affected cattle were all products of line breeding programs and shared a common ancestor. The absence of dietary iron loading in conjunction with the histopathologic and metabolic findings were consistent with a diagnosis of primary hemochromatosis. The reported disease is similar to idiopathic hemochromatosis in human beings in which there is a hereditary defect in iron metabolism.
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PMID:Hemochromatosis in Salers cattle. 804 72