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)

145 patients were diagnosed to have hereditary spherocytosis (HS) over a period of 25 years. Jaundice (66.9%), fever (65.5%), weakness (44.8%), and abdominal pain (35.8%) were the commonest complaints. 94.5% had splenomegaly (JP-17 cm) and 71.7% had hepatomegaly (JP-6 cm). Spherocytes were detected in the peripheral smears of all patients at presentation on careful examination. 67 patients had been investigated elsewhere and spherocytes missed in 86.6%. Gall stones were seen in 20 of the 54 patients investigated. Family history suggestive of HS was available in only 16.6% of cases, whereas examination and investigations revealed HS in almost all families. Splenectomy was done in all symptomatic patients. In the 39 patients followed up for 1-9 years after splenectomy.
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PMID:Hereditary spherocytosis: experience of 145 cases. 163 47

A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglycemia, seizure disorder or growth retardation. Muscle weakness was not apparent until the sixth decade. Despite the mild clinical course, debranching enzyme activity was not detectable by biochemical assay, and immunoblot analysis using a polyclonal antibody showed a complete absence of debrancher protein. Thus, mild clinical manifestations in this patient could not be explained by the residual debrancher enzyme and/or activity.
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PMID:Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein. 182 91

An eleven year old boy was referred because of sudden loss of consciousness, muscular weakness, poor general health, severe hypoglycemia with seizures and hepatomegaly. Response to oral glucose and galactose increased blood lactic acid and glucose at different times. Fasting values of blood lactic was normal, but glucose was found at 33 mg/dl. Similar test made up two hours after feeding revealed hyperlactatemia (35-50 mg/dL) and hyperglycemia (129 mg/dL). Glucagon did not result in a rise of glucose at fasting or feeding. Hepatic glycogen content was found 15 gm/100 mg of tissue. The enzyme activities revealed a deficiency of the liver debranching enzyme while leukocytes had normal enzyme activity. Hepatic biopsy showed liver fibrosis. The present case had the clinical characteristics of severe form of glycogen storage disease. A low carbohydrate and high protein diet was indicated in order to increase the gluconeogenic precursors. Although debranching enzyme deficiency is almost always benign a high carbohydrate diet induced a more severe expression of the disease.
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PMID:Diet therapy in severe clinical expression of debrancher deficiency. 184 14

The authors make a review of recent data in the literature and compare them to their own cases between 1983 and 1988. They analyzed eight patients with idiopathic myelofibrosis confirmed with bone marrow biopsy of the posterior iliac wrist with Jamshidi's needle. Most patients were between 55 and 60 years old (5 male and 3 female). Major symptoms were weakness and bleeding (6/8 cases), weight loss and bone distress (4/8 cases). In general, physical signs were splenomegaly and anemia (7/8 cases), hepatomegaly (5/8 cases), and jaundice (2/8 cases). Laboratory features were variable. Most cases were diagnosed in an advanced stage of the disease. Therapy with busulfan, prednisone, oxymetholone and radiotherapy of the spleen was used alone or in combination to relieve compressive abdominal symptoms. This review shows that idiopathic myelofibrosis should be included in the differential diagnosis of patients with hepatosplenomegaly and anemia.
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PMID:[Idiopathic myelofibrosis]. 188 77

Chronic granulocytic leukaemia (CGL) is the commonest leukaemia among adults in India. Case records of 183 CGL patients diagnosed between 1975 and 1985 were reviewed. The median age at diagnosis was 40.5 years. Most patients presented with weakness, fullness in the left upper abdomen and fever. Splenomegaly and hepatomegaly were present in 90% and 48% respectively. Patients were treated with oral, intermittent busulphan with monitoring of total leucocyte count. Overall, 87 patients expired, including 63 (72%) due to blast crisis. The median survival was 33 months from diagnosis and 44 months from the onset of symptoms.
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PMID:Chronic granulocytic leukaemia. A study of 160 cases. 162 26

We examined serum-free carnitine (SFC) concentrations and serum acylcarnitine (SAC)/SFC ratios in 40 severely handicapped patients, aged 2 to 36 years, and 69 age-matched control subjects. SFC levels in the patients treated with valproic acid (VPA) and/or receiving carnitine-deficient elemental diets (ED) were significantly lower, and their SAC/SFC ratios were significantly higher than in the other patients or in control subjects. There were 6 patients whose SFC levels were less than the -2SD level (15.8 +/- 6.7 microM, range 6.3-25.5) of those in control subjects (52.1 +/- 11.5 microM). They had no clinical symptoms of carnitine deficiency such as non-ketotic hypoglycemia, hepatomegaly, muscle weakness or cardiac function impairment, and showed normal transaminase, lipid and ammonia levels. In two cases (SFC = 11.0, 13.4 microM), the ketogenic responses to intravenous administration of fat-emulsion were impaired, but they were restored after D-,L-carnitine supplementation (30 mg/kg/day, po) for 1 month. However, in one case with the lowest SFC level (6.3 microM), the ketogenic responses to fat-emulsion infusion or fasting were normal, and dicarboxylic aciduria was not detected. These results indicate that 1) SFC levels are reduced in handicapped patients receiving VPA and/or ED, although clinical symptoms of carnitine deficiency do not easily develop, 2) some of these hypocarnitinemic cases show a subclinical impairment of hepatic fatty acid metabolism, not always correlated with the degree of SFC reduction, which can be restored by exogenous carnitine supplements, and therefore 3) in patients with acquired hypocarnitinemia, carnitine therapy should be considered, although a low SFC level alone may not imply an immediate indication.
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PMID:Secondary carnitine deficiency in handicapped patients receiving valproic acid and/or elemental diet. 214 48

Phosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly, and in 2 adults with cramps on exertion. We observed 2 additional adults with phosphorylase b kinase deficiency: Patient 1, aged 58, had progressive, predominantly distal weakness since age 46 but no cramps on exertion; Patient 2, aged 26, had cramps on exertion since age 6 but no weakness. Lactate production on ischemic exercise was impaired only in Patient 1. The serum creatine kinase level was elevated in both. Muscle specimens showed focal glycogen excess in both, and a necrotizing myopathy and mild denervation atrophy in Patient 1. Muscle phosphorylase b kinase activity was 0.5% and 8.9% of the lowest control value in Patients 1 and 2, respectively; erythrocyte phosphorylase b kinase activity was normal in both; liver phosphorylase b kinase activity, measured in Patient 1, was also normal. Other glycolytic enzymes in muscle were preserved in both.
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PMID:Adult phosphorylase b kinase deficiency. 225 64

A 60-year-old man with primary splenic hemangiosarcoma (PSH) presented with weakness, weight loss, abdominal pain, and anemia. Physical examination revealed hepatomegaly, ascites, and firm, huge splenomegaly. Ultrasonography showed many nodular structures characterized by hypoechogenic and hyperechogenic areas. The patient also had portal hypertension, which was confirmed by physical findings and by measurement of portal vein pressure during operation. A liver-spleen scan using Tc-99m sulfur colloid and Tc-99m labeled heat denatured erythrocytes failed to demonstrate any splenic uptake, a reliable feature of functional asplenia. Although on a total body scan with Ga-67 citrate there was no splenic uptake, there was gallium uptake in the liver, where the presence of the metastatic lesion was histopathologically verified and confirmed by operation. There was also uptake in the middle zones of the lungs. Ga-67 citrate imaging appears to be helpful in the diagnosis of metastasis of PSH, and PSH can rarely cause portal hypertension.
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PMID:Functional asplenia and portal hypertension in a patient with primary splenic hemangiosarcoma. 234 Jun 75

A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. Glycogen accumulation was demonstrated in both liver and muscle and there was a deficiency of phosphorylase b kinase activity. On the basis of biochemical findings, an autosomal recessive mode of inheritance was considered likely, rather than the more common X-linked variant, with primarily liver involvement.
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PMID:Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. 260 29

A 17-year-old boy with muscular dystrophy developed a cardiomyopathy. His brother died of a cardiomyopathy, and muscle enzyme levels were elevated in asymptomatic family members. Examination revealed cardiomegaly, hepatomegaly, proximal muscle atrophy and weakness, and calf hypertrophy. Skeletal muscle and endomyocardial biopsy specimens were consistent with Becker's muscular dystrophy. Because of intractable heart failure, orthotopic cardiac transplantation was performed. Two years after transplantation, the patient has returned to work and regained previous exercise tolerance. Heart transplantation can be an acceptable treatment of patients who have muscular dystrophy, with preserved ambulation and favorable life expectancy, and also life-threatening cardiomyopathy refractory to medical management.
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PMID:Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. 265 28


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