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 clinical and pathologic findings in 24 patients with "angio-immunoblastic lymphadenopathy with dysproteinemia" (AILD) are presented. The patients' ages ranged from 44 to 80 years, with a median age of 68 years. The disease has an acute onset. In many respects, the clinical presentation is suggestive of malignant lymphoma. Generalized lymphadenopathy was always present. Hepatomegaly was found in 20 patients, splenomegaly in 17, constitutional symptoms in 20 and skin rashes in nine. Twenty patients had anemia, with positive Coombs' test in eight of 14 tested. Polyclonal hypergammaglobulinemia was found in 17 of 22 patients. Two patterns of evolution were recognizable: (1) long survival (24 to 67 months) without treatment or after the administration of intensive combination chemotherapy; and (2) rapid progression (one to 19 months) regardless of the treatment given. Sixteen patients died; postmortem examination in 10 cases showed the cause of death to be attributable to severe infection in eight patients, to renal disease in one and to cardiovascular disease in one. No evidence of malignant lymphoma was seen in any of these autopsies. Histologically, the disease is systemic, with specific lesions in the lymph nodes. The spleen, liver, bone marrow, skin and lung are also involved, but the changes are less characteristic than in the lymph nodes. In the patients in whom sequential biopsies were performed, a trend toward restoration of the nodal architecture was observed. AILD is a clinical-pathologic entity in a spectrum of yet to be defined immune reactions. The clinical, laboratory and pathologic manifestations of AILD are consistent with an autoimmune disorder, in which a deficiency of the T-cell regulatory functions probably predisposes to an abnormal proliferative and autoaggressive reaction of the B-cell system. Surgical staging procedures do not appear to be indicated. Intensive cytotoxic treatment may be hazardous in some patients, precipitating their death, but long survival after such therapy has been observed in others. Supportive therapy and small doses of steroids appear to be a safer therapeutic approach.
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PMID:Angio-immunoblastic lymphadenopathy. Diagnosis and clinical course. 119 Feb 54

A familial syndrome of partial lipodystrophy inherited as a dominant trait is reported. Subcutaneous fat loss was confined to the extremities and trunk. Diabetes mellitus, hyperlipidemia, hepatomegaly and renal disease were very prevalent in this family. Metabolic studies were performed on 3 members. In vivo tests suggested that the remaining fat tissue responded normally to stimulators and inhibitors of lipolysis. In vitro incubation of the dystrophic fat tissue of one patient suggested that the intracellular pathways of lipid and glucose metabolism were normal. The pattern of subcutaneous loss of adipose tissue observed in this family may be due to sympathetic nervous system overactivity of certain non-contiguous dermatomes.
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PMID:Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. 120 25

A feline erythropoietic porphyria was studied in an affected female Siamese cat and 2 male offspring. The principal elevated porphyrins were Type I isomers of uroporphyrin and coproporphyrin; the porphyrin precursors, porphobilinogen and sigma-aminolevulinic acid, were also detected. Porphyrins were present in the blood and in all the viscera, teeth, bones, and excreta. There was severe macrocytic hypochromic anemia, hepatomegaly, splenomegaly, and uremia associated with a renal disease characterized by mesangial hypercellularity and proliferation (resulting in narrowing of glomerular capillaries) and ischemic tubular injury. There was thickening of tubular basement membranes and tubular epithelial lipidosis, degeneration, and necrosis. Electron microscopic studies of bone marrow and kidney revealed the presence of membrane-enclosed lamellar bodies 150 to 1000 nm in diameter in cytoplasmic and extracellular locations.
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PMID:Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies. 123 63

Reports mainly from Japan, recommend germanium (Ge)-containing compounds as "anti-cancer" and "immunostimulatory" remedies. We report on a 25-tear-old woman with stage II HIV disease who consumed a total of 47 g Ge as Ge-lactate-citrate 18%. She developed severe renal insufficiency (creatinine clearance 7 ml/min/1.73 m2, proteinuria 0.28 g/d) and hepatomegaly. Biopsies revealed tubulointerstitial nephropathy with vacuolar degeneration, mainly of distal tubular epithelia, and severe liver steatosis. Tissue Ge content in kidney and liver biopsy specimens was increased 68-and 140 fold respectively. In agreement with previous reports, renal dysfunction persisted 9 months later (creatinine clearance 11 ml/min/1.73 m2).
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PMID:[Toxicity of an organic Germanium compound: deleterious consequences of a "natural remedy"]. 159

AO-128 is a potent and structurally novel inhibitor of the intestinal disaccharidases, such as maltase and sucrase. Genetically obese-diabetic mice, KKA(y), were used to examine the acute or long-term effectiveness of this compound. AO-128 decreased a postprandial rise in blood glucose after sucrose solution loading dose-dependently; the ED50 to reduce a delta increment of blood glucose by 50% was 0.22 mg/kg. The intestinal sucrase and maltase activities were suppressed to 7 and 48% of the control levels, respectively, at a dose of 0.21 mg/kg. Four-week-old female KKA(y) mice were kept on a laboratory diet containing 10 or 50 ppm of AO-128 for 12 weeks. The high dose of AO-128 reduced food intake and body weight gain throughout the experimental period. On the other hand, the low dose reduced body weight gain for the first 4 weeks without any effect on food intake. Development of the hyperglycemia and hyperinsulinemia characteristic of KKA(y) mice was moderately prevented by the low dose, and completely by the high dose. Hypertriglyceridemia tended to be suppressed by the AO-128 treatment. The high dose decreased the hemoglobin A1 level and parametrial adipose tissue weight. Hepatomegaly and fatty liver were ameliorated by AO-128 dose-dependently. Nephropathy was ameliorated by the high dose. These findings indicate that AO-128 may be useful for treating human obesity and diabetes.
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PMID:Antiobesity and antidiabetic actions of a new potent disaccharidase inhibitor in genetically obese-diabetic mice, KKA(y). 162 84

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

From 1956 through 1989, 38 men and 26 women were seen at the Mayo Clinic with biopsy-proven AA. The underlying disorder was rheumatic disease in 42, infectious disease in 11, inflammatory bowel disease in 6, and other causes in 5. All patients were symptomatic at the time of diagnosis. Fifty-eight of the 64 patients had proteinuria or renal insufficiency. Fourteen also had significant symptoms of gastrointestinal amyloid, and 6 had amyloid goiter. None of the patients had symptomatic cardiac involvement, and only 3 had palpable hepatomegaly. Renal, gastric, rectal, fat, and marrow biopsies were positive for amyloid in 100%, 94%, 82%, 58%, and 46% of tested patients, respectively. The median survival of the entire group was 24.5 months. Thirty-five of the 47 deceased patients died as a direct result of their amyloidosis, primarily from complications of renal failure. Nine were successfully treated and had regression of the disease. Two with bronchiectasis responded to long-term cyclic antibiotic therapy, as did 1 patient with osteomyelitis. One patient with inflammatory bowel disease responded to surgical resection, and 1 with familial Mediterranean fever responded to colchicine. Four patients with rheumatic disease were treated with cyclophosphamide (in 2) and methotrexate (in 2), with complete resolution of their renal disease. All 9 successfully treated patients are alive, with a median follow-up of 58 months. Statistical analysis revealed that creatinine values greater than or equal to 2.0 mg/dl (P less than 0.003) and a serum albumin value less than 2.5 g/dl (P less than 0.02) were associated with a poorer survival. The single strongest variable associated with poor survival was a serum creatinine level greater than 2 mg/dl at presentation, with a median survival of 11.2 months compared to patients with a creatinine level less than 2.0 mg/dl, with a median survival of 56.9 months.
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PMID:Secondary systemic amyloidosis: response and survival in 64 patients. 206 9

Three cases of glycogenosis are presented. They were recognized by clinical evidence and hepatic biopsy specimens. Dietary treatment with a normocaloric diet and raw corn starch every 6 hours was given. In cases 1 and 2 hepatic size returned to normal and they showed an initial catch up growth without signs of renal disease or other complications. Case 3 showed persistent hepatomegaly, normal growth pattern and no hypoglycemic episodes independently of nutritional management. These cases represent our initial experience on nutritional intervention in glycogenosis, even though enzymatic tests were not done, which are considered essential for optimal diagnosis and nutritional therapy of glycogen storage disease.
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PMID:[Nutritional management of glycogenosis]. 207 87

Heart is involved nearly in 90% of acquired, systemic amyloidosis in a course of plasmocytoma, monoclonal gammapathy, Waldenstrom's disease and others immunological disorders. In classical acquired systemic amyloidosis due to chronic bacterial infection and other inflammatory states heart involvement is observed in 54% of patients. Authors presented a case of cardiac amyloidosis coexisting with hepatomegaly and nephropathy due to plasmocytoma. Diagnosis was based on the echocardiographic examination to which the patient was sent as the unstable postinfarction angina. Echocardiographic image typical of amyloidosis revealed such changes as: concentric both ventricular hypertrophy, generalized contractility impairment, thickness of intraatrial septum and pericardium with minimal effusion. Echocardiographic diagnosis was proved by the anatomopathologic examination.
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PMID:[Echocardiographic image of cardial amyloidosis]. 227 23

Over a 15-year period we observed seven children (four girls, three boys) who presented within the first months of life with severe renal failure and acidosis, associated with hypertension in five patients and polyuria in four. In addition, one patient had a severe cholestatic liver disease. In two families, a similarly affected sibling had died previously. Four patients were referred with the clinical diagnosis of polycystic kidney disease because of moderate enlargement of kidneys, but renal imaging (intravenous pyelography and ultrasonography) did not confirm this diagnosis. A renal biopsy, performed in all patients, showed similar features characterized by a diffuse chronic tubulo-interstitial nephritis (TIN) and particularly by the presence of microcystic dilatation of proximal tubules and Bowman's space. Liver pathology was normal in two patients, including one with hepatomegaly. However, in the patient with cholestasis there was inflammatory portal fibrosis with mild duct proliferation. Progression of the renal disease was extremely rapid and all patients reached end-stage renal failure (ESRF) before the age of 2 years (11-22 months). Two children had successful renal transplants. Although this chronic TIN shares some features with nephronophthisis, we suggest that it represents a distinct entity both on clinical and morphological grounds. The specific clinical features of this disease are its early onset and rapid progression to ESRF. Pathologically, it differs from nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts.
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PMID:Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 270 88


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