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)

The results of biochemical studies in three children with cholesterol ester storage disease are reported. This rare disease (13 published cases) and the related Wolman's disease are characterised by a deficiency of acid lipase. Affected children mostly present with isolated hepatomegaly. Hepatic cells (one patient) and fibroblasts (two patients) were cultured and cholesterol accumulation measured. Hepatic cells contained more cholesterol than fibroblasts but the enzyme deficiency, assessed by the abnormal degree of esterification was the same in both cell types.
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PMID:[Cholesterol ester storage disease in children. Comparative biochemistry of hepatocyte and fibroblast cultures]. 74 52

Hepatoma is a rare disease in Natal Indians. It occurs in male patients in the fifth decade. They have no history of alcohol intake. The main presenting feature is abdominal pain, weight loss and hepatomegaly. Blood tests reveal a raised alkaline phosphatase, hypoalbuminaemia, hypergammaglobulinaemia and markedly raised gamma glutamyl transferase. The tumour is a single large expanding mass in the right lobe. The patient usually presents in a late stage of the illness and shows a progressive downhill course. Hepatitis B virus infection is emerging as the likeliest carcinogen.
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PMID:Hepatocellular carcinoma in South African Indians resident in Natal. 198

Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement. We experienced 3 cases of congenital hepatic fibrosis with Caroli's disease in 3 siblings, whose clinical manifestations were diverse, such as repeated cholangitis, variceal hemorrhage, or intrahepatic stones. All of them had multiple renal cysts, so we supposed that the clinical entities of these patients were in the spectrum of fibropolycystic disease of the liver and kidney.
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PMID:Three cases of congenital hepatic fibrosis with Caroli's disease in three siblings. 209 93

Listeriosis of the newborn is a relatively rare disease, presenting with clinical signs of septicemia. Early onset disease, resembling group B streptococcal septicemia, is already transmitted from the mother to the fetus and is associated with high morbidity and mortality. Late onset septicemia occurs as sporadic or as epidemic disease, usually beyond the fifth day of life. Epidemics can be caused by consumption of contaminated food or by nosocomial infections in neonatal units. Phage typing offers an opportunity to elucidate the route of transmission. During a 7 years period, 5 neonates ware diagnosed to have early onset, 1 newborn to have late onset Listeriosis. They all showed signs of bacterial septicemia with typical changes of white blood cell count, elevated CRP, hepatomegaly, and severe pneumonia. In all patients Listeria monocytogenes could be isolated from blood cultures. Serological tests were negative in all cases. 3 patients died. Nosocomial transmission of Listeria monocytogenes from one infant to another was proven by phage typing.
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PMID:[Listeriosis in newborn infants]. 212 91

A 69-year-old male, who had been found (during a routine roentgenogram of the chest at an annual check-up) to have cardiomegaly, had been asymptomatic until 63 years of age, when DOE and swelling of the legs appeared. He visited our hospital because these symptoms has become more severe. Physical examination revealed JVD, third heart sound and a grade 3 holosystolic murmur, hepatomegaly and edema in the lower legs. His ECG showed atrial fibrillation. His chest X-P showed marked cardiomegaly and rt pleural effusion. His echocardiography and MRI revealed a marked enlargement of the right atrium and a slight enlargement of the right ventricle. The latter also showed persistent left superior vena cava. The cardiac catheterization, angiocardiography and intracavitary electrocardiography revealed no organic cardiac disease which induced enlargement of the right atrium. The idiopathic enlargement of the right atrium is a rare disease. Patients suffering from this disease are asymptomatic in most cases. We reported the idiopathic enlargement of the right atrium with persistent left superior vena cava in this paper.
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PMID:[Idiopathic enlargement of the right atrium with persistent superior vena cava]. 214 15

Human hepatic capillariasis is a rare disease, which predominantly affects children aged 1 to 4 years and has a poor prognosis in extensive infections. This is the first case observed in Germany. The main symptoms are those of severe parasitosis: persistent high fever, hepatomegaly, and excessive hypereosinophilia. Diagnosis is confirmed by the finding of intracellular typical eggs in liver biopsy. There is a lack of established therapy; our 18 months old girl developed liver fibrosis. She survived under a prolonged treatment with high doses of Thiabendazole and two single doses of Ivermectine. Decortin was given to inhibit further granulomatous processes in the liver.
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PMID:[Severe liver involvement by Capillaria hepatica]. 229 Apr 36

Although the liver is one of the four organs most often involved in generalized mastocytosis (GM), little is known about macroscopic and microscopic liver findings in this rare disease. This study included 182 patients with GM (confirmed in most by bone marrow histologic study), comprising 52 cases of our own and 130 reported in the literature. Hepatomegaly was found in 131 (72%) of the 182 patients, cirrhosis in seven (4%), and periportal fibrosis in 25 (14%). Mast cell (MC) infiltration of the liver was confirmed histologically in 77 (42%). Liver specimens were available for further histologic investigation in 11 of our own cases of GM. Nine of these contained MC aggregates. Mast cells were found predominantly in the portal tracts but numerous MC also were loosely scattered throughout the sinusoids. Diagnostic confusion of GM with reactive lesions of the liver is unlikely to occur since MC, according to our own observations and the available literature, are found only in very low numbers in normal liver tissue, where they occur mainly in the portal tracts. Reliable identification of MC does, however, require special stains, like Giemsa, toluidine blue, or naphthol AS-D chloroacetate esterase.
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PMID:Liver findings in generalized mastocytosis. A clinicopathologic study. 264 56

This is a report on a child with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness and abnormally elevated serum steroid disulfates neonatally. When analysed by gas-liquid chromatography (glc) and gas chromatography-mass spectrometry (gc-ms) the following serum steroid disulfates were very high 5 days after birth: 5-androstene-3 beta,17 alpha-diol (56 micrograms/ml), 5-androstene-3 beta,17 beta-diol (25 micrograms/ml) and 5-pregnene-3 beta,20 alpha-diol (26 micrograms/ml). The values are about one hundred times higher than the reference values at this age. At the same time serum steroid monosulphate concentrations were normal. The patient had normal steroid sulfatase activity in skin biopsies, indicating that enzyme deficiency was not the reason for the high steroid disulfate concentrations. When serum steroid disulphatases were next analysed at 16 months of age they were normal. No hepatomegaly was observed but the other laboratory data support the hypothesis that the serum steroid disulphate concentrations were due to neonatal hepatography. Later, no indications of chronic liver disease were observed. These indications have not been described earlier in ichthyosiform erythrodermia and it is possible that the patient represents a new type of this rare disease.
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PMID:A congenital ichthyosiform syndrome with deafness and elevated serum steroid disulphate levels. 616 35

Alveolar echinococcosis of the liver is a disease caused by the intrahepatic growth of Echinococcus multilocularis larvae. In contrast to hydatidic cyst caused by Echinococcus granulosus, this is a rare disease in Spain. We present a case of alveolar echinococcosis of the liver which presented with jaundice and hepatomegaly. An infiltrative solid tumor was diagnosed by US and CT scan. The patient required left hepatectomy and interventional radiology procedures with satisfactory results. Diagnosis and treatment of this disease are discussed.
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PMID:[Hepatic alveolar hydatidosis]. 839 73

A 59-year-old man was admitted to our hospital on May 17, 1991 because of dizziness and a sense of abdominal fullness. Physical examination on admission showed splenomegaly without hepatomegaly or lymphadenopathy, and blood examination revealed normocytic anemia, thrombocytopenia and marked leukocytosis of 16,800/microliters with 87% lymphoid cells. Prolymphocytoid cells formed 28% of the lymphoid cells. Bone marrow aspiration revealed massive infiltration of lymphoid cells. Surface marker analysis showed that the lymphoid cells were positive for anti-HLA-DR, CD 5, CD19, CD20, CD21, SmIgM and SmIgD. The patient was diagnosed as having B-CLL/PL, according to the classification advocated by Melo in 1986, and initially treated with vindesine + prednisolone + pirarubicin (VP-THP). However, the prolymphocyte count increased, so we changed to VP-THP + cyclophosphamide (VEP-THP), and remission was obtained. CLL/PL is a rare disease in Japan but we obtained a good response to chemotherapy.
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PMID:[A case of B-chronic lymphocytic leukemia/prolymphocytic leukemia (CLL/PL)]. 842 81


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