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)

Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were found to have very high concentrations of methylmalonic acid in their serum and urine. In vitro studies of fibroblasts demonstrated that the infants had different variants of methylmalonic acidemia.Vitamin B(12) was given in two different forms at 1 month of age and at 12 months of age. Each trial continued for 4 months but neither infant showed a clinical or biochemical response.In both infants hyperglycinemia, neutropenia and thrombocytopenia developed during acute metabolic crises only. Hypoglycemia was found in patient 2. Hyperammonemia was severe in patient 2 during acute crises but never appeared in patient 1. When clinically well, both infants continued to excrete abnormal amounts of methylmalonic acid in the urine and both had persistent compensated metabolic acidosis.Marked hyperuricemia developed in patient 1 at 18 months of age and led to progressive renal failure. Allopurinol therapy was necessary to keep the uric acid concentration within the normal range. Renal function returned to normal, as indicated by a marked increase in the renal clearance of creatinine and uric acid.Patient 1 is physically and mentally retarded, and has moderate hypotonia, hepatomegaly and persistent vomiting. Patient 2 has developed normally.The urine concentrations of methylmalonic acid in the four parents were normal.
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PMID:Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy. 3 17

Nine children with clinical diagnosis of glycogenoses were studied, types were confirmed through determination of levels and structure of glycogen, stimulation with glucagon and enzymatic defect analyses. Eight patients suffered glycogenoses type III and one, type VI. The major age group un type III was 1 to 2 years old (62.5%), the type VI was diagnosed in a preschool boy. Mean clinical features were: hepatomegaly, doll-like facies and short height. Major biochemical alterations were: transaminases elevation in both types, hypertriglyceridemia, hyperglycemia, metabolic acidosis and hyperuricemia only in glycogenoses III. One III type patient presented cardiovascular alterations. All patients showed increased concentrations of erythrocyte glycogen, with normal structure in type VI and abnormal in 75% of type III. Tree fourths of type III patients had a positive response to glucagon stimulation. No one presented glucose 6 phosphatase deficiency.
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PMID:[Hepatic glycogenosis: the clinical, biochemical and enzymatic aspects in a group of pediatric patients]. 134 Aug 24

A total of 164 patients with alcoholism-induced osteonecrosis were seen over a 22-year period, from 1962 to 1984. Twenty-three percent of patients were female and 30.5% were black. The average duration of alcohol abuse was 9.5 years, ranging from 8 to 20 years. The presence of femoral head necrosis was diagnosed in patients aged 21-67 years; 28% of patients were under 40 years of age and 76% were under 50 years. Bilateral hip necrosis was present in 44.5% of patients and, within three years of the diagnosis of FHN, the presence of multifocal necrosis became evident in 23 cases at sites away from the hip (shoulders and knees). Hyperlipidemia was found in 38.4% of cases, involving both cholesterol and triglycerides. Serum amylase was elevated in 33 patients; liver dysfunction was present in 50; hepatomegaly was found in 32; and biopsy-confirmed cirrhosis was present in 22 cases. Hyperuricemia was found in 22 patients, some of whom had received steroids. Disabling hip pain was the first manifestation of disability related to alcohol abuse in 158 patients, most of whom required total hip joint replacement. This study supports the hypothesis that alcoholism-induced bone necrosis is caused by fat embolism linked to co-existent hyperlipidemia. The treatment of hyperlipidemia by dietary means or lipotropic medication and the cessation of alcohol abuse is advised. Multi-center studies employing such treatment should provide evidence of its effect on the evolution of necrosis as well as the incidence of bilateral hip femoral head necrosis and multifocal lesions.
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PMID:Alcoholism-induced bone necrosis. 151 11

The renal disease in an adult woman with Type 1 glycogen storage disease (GSD) is reported. Since she was 15 years old, several episodes of gouty arthritis had developed. At the age of 18, proteinuria was pointed out. Hepatomegaly, renomegaly out of proportion to the impairment of renal function, hyperuricemia, hyperlipidemia, fasting hypoglycemia and lactic acidemia were observed. The diagnosis of GSD was established on the basis of a glucose tolerance test, glucagon test and liver biopsy. The findings of renal biopsies performed at the ages of 24 and 27 years old suggested that glomerular damage might have preceded the tubulo-interstitial lesion.
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PMID:Renal disease in an adult with type 1 glycogen storage disease. 203 36

A 31-year-old male patient with type Ia glycogen storage disease was admitted to our department complaining of general fatigue and right hypochondriac pain. He exhibited massive hepatomegaly with systemic hypoglycemia, lactic acidosis, hyperuricemia, hyperpyruvatemia and hyperlipemia. The failure of blood glucose levels to increase after a glucagon loading test, and a reduced lactate level on glucose tolerance test were also observed. Various imaging techniques suggested hepatic adenoma with hemorrhage in the tumor, which was confirmed histologically. There was a complete absence of glucose 6-phosphatase activity, as determined by an enzyme assay on resected liver specimens, which proved the case to be type Ia glycogen storage disease. We also reviewed all previously reported cases of hepatic tumor and glycogen storage diseases. We conclude that, since hepatic adenoma is not rare in this disease, and is complicated by hemorrhage, rupture and malignancy, careful follow-ups are necessary.
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PMID:A case of type Ia glycogen storage disease complicated by hepatic adenoma. 217 Feb 59

Hepatic glycogenosis, heterogeneous in their type, appear in children as an hepatomegaly discovered during manifestations of hypoglycemia and/or growth disorders, sometimes in the course of a systematic physical examination. A usually late puberty determines a transient aggravation of the height insufficiency. Persistence of a marked hepatomegaly and the development of lever adenomas are characteristic of type I glycogenosis. There, the metabolic imbalance (hyperlipoproteinemia and hyperuricemia, especially), lead to severe vascular and renal complications. Haematologic and sometimes infectious disorders may be added. In type III glycogenosis, the danger depends less on the liver fibrosis, usually minimal, than on the frequently associated cardio-vascular involvement. Type VI glycogenosis, usually have a favorable course. Current therapeutic progresses and a better care should result in a marked improvement of the evolution in type I and probably type III.
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PMID:[Clinical aspects of hepatic glycogenoses]. 316 8

An uncommon case of a patient with Madelung's disease (Launois-Bensaude disease, multiple symmetrical lipomatosis) is reported. Moreover, the patient suffered from alcoholic hepatomegaly, an atrophic right kidney, Dupuytren's contracture of both hands, hyperuricemia and psoriasis. The etiology of Madelung's disease is discussed.
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PMID:[Madelung's lipomatosis of the neck--expression of an alcohol-induced endocrine disorder?]. 380 1

Prognostic factors in a group of 90 patients with chronic lymphocytic leukemia were studied by methods of survival analysis. The relationship between survival and a set of demographic, clinical and laboratory variables, and identification of subsets of variables that are associated with survival, was tested by multivariate analysis, which is based upon Cox proportional hazards regression models in a stepwise procedure. Six variables showed significant correlation with survival: lymph node enlargement, splenomegaly, hepatomegaly, increased percentage (greater than 80%) of lymphocytes, hyperuricemia, and anemia. Stepwise analysis showed that the number of coexistent risk factors was a better predictor of survival than any single risk marker (P less than 0.001). Median survival of patients with 0 or 1 risk marker was 120 months; with 2 or 3, 96 months; with 4, 36 months; and with 5 or 6, only 24 months. Comparison of staging by number of risk markers with staging of the same patients by the Rai system showed a significant trend of decreasing survival with increasing number of risk markers within the same Rai stage. Staging by the number of coexistent risk markers is a simple and readily available method, which may complement existing methods to provide a more accurate assessment of prognosis in patients with chronic lymphocytic leukemia.
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PMID:Multivariate analysis of prognostic factors in chronic lymphocytic leukemia. 401 42

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.
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PMID:Glycogen storage disease type Ib. 631 72

Type IB Glycogen storage disease (GSD) is a new variant of type I Glycogen storage disease. It is characterized by same clinical findings: hepatomegaly, fasting hypoglycemia, hyperlipidemia, hyperuricemia, lactic acidosis, renal enlargement, short stature; but it distinguish for normal glucose-6-phosphatase hepatic activity in vitro. The involvement is in G-6-P transport system. Recently has been described in some patients with GSD IB, neutropenia and defective neutrophil mobility. In this report the authors described two family cases of GDS IB that one characterized by severe neutropenia.
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PMID:[Neutropenia in glycogenesis I B]. 659 20


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