Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A simple one-vial-method was developed for the quantitative determination of sphingomyelinase activity in human leukocytes and urine, using [14C-methyl] sphingomyelin. The measured activities of healthy control persons show a higher scatter in (n=50) urine (1.2 +/- 0.5 nmol/h . ml urine) than in (n=9) leukocytes (2.15 +/- 0.35 nmol/h . mg protein). Long term tests showed that the enzyme activities in urine can best be correlated to the 24-h-creatinine excretion. A distinct loss of enzyme activity was found in dialyzed urine starting at about the third day; this did not occur in undialyzed urine. The method also shows good reproducibility in micro-tests. It is therefore suitable for screening tests (urine of persons suffering from Niemann Pick disease) and for the prenatal diagnosis of sphingomyelinosis. For one out of two children with symptoms of sphingomyelinosis (hepatosplenomegaly, mental retardation, and neurological deterioration) the diagnosis was confirmed by morphological examination of tissues obtained by biopsy. In both cases leukocytes and urine revealed normal sphingomyelinase activity. These biochemical results in conjunction with the clinical and morphological picture were indicative of type C Niemann-Pick disease.
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PMID:An improved and simple micro-method of sphingomyelinase assay in leukocytes and urine. 21 Nov 76

Leucine aminopeptidase (LAP) activity and creatinine concentration was estimated in serum of twenty five normal adult subjects, twenty four cases with active urinary bilharziasis, eleven cases with active intestinal bilharziasis, ten cases with mixed bilharzial infection (urinary and intestinal), fourteen bilharzial cases with clinical hepato-splenomegaly of bilharzial etiology, thirteen bilharzial cases with clinical hepatosplenomegaly and ascites, and twelve cases with cancer bladder of bilharzial etiology. Significant elevation in the serum enzyme level was found in all bilharzial cases which generally ran parallel to the course of the disease, being more marked in hepatosplenomegalic cases than in cases which showed no clinical signs of liver or spleen involvement. However, it was observed that the enzyme level was lower ascitic than in nonascitic cases. For serum creatinine concentration, no significant variation from normal value was observed in the group of patients with active urinary, active intestinal, mixed infections of bilharziasis and bilharzial hepatosplenomegalic cases. However, a very highly significant decrease in serum creatinine concentration was observed in the group of patients with bilharzial hepatosplenomegaly and ascites. Serum LAP activity and creatinine concentration in the group of patients with cancer bladder of bilharzial etiology showed no statistical variation from normal values.
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PMID:Leucine aminopeptidase, Significance of serum elevation in bilharziasis. 103 91

A female infant presenting congenital ascites, hepatosplenomegaly, coarse face, and delayed mental and physical development is described. Oligosaccharides in the urine and the abdominal ascites of this patient were investigated by Bio-Gel column chromatography. The level of urinary oligosaccharides excreted (nmol/mg creatinine) by the patient was 25.8 times the levels of the controls. The oligosaccharides in the urine and the ascites were composed almost entirely of sialyl oligosaccharides. The structures of urinary oligosaccharides were the same as those of oligosaccharides in the ascites. The ratio of high molecular weight sialyl oligosaccharides with repeating structures to low molecular weight sialyl oligosaccharides was higher in the ascites than in the urine.
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PMID:Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites. 150 87

The acute form of tyrosinemia type I usually causes severe hepatocellular dysfunction. We report a 4-month-old infant with hepatosplenomegaly, ascites, and multiple intrahepatic mass lesions mimicking hepatoma. A marked increase of serum alpha-fetoprotein (97.6 micrograms/ml) and multiple small low-density lesions in the liver demonstrated by computed tomography suggested the presence of hepatoma. The liver specimens obtained at laparatomy showed mixed nodular cirrhosis with fatty metamorphosis. Serum levels of tyrosine (6.6 mg/100 ml) and methionine (5.9 mg/100 ml) were increased. Urinary organic acid analyses disclosed increased excretions of succinylacetone (1,330 mg/g creatinine) and delta-amino-levulinic acid (113.6 mg/g creatinine). Histological abnormalities and biochemical evidences led to the correct diagnosis. This case emphasizes the need for complete investigations of puzzling cases and warns against undue reliance on noninvasive imaging techniques.
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PMID:An acute form of tyrosinemia type I with multiple intrahepatic mass lesions. 169 41

We have reviewed sixty three cases of patients with hepatosplenomegaly admitted at the internal medicine service at the Hospital Infantil del Estado de Sonora over a period of the ten years. We didn't found differences in the number of male and female children. The larger groups were from 1 month to 6 years old age. The nutrition status were normal in more of 80% of the patients. The time that children spent at the hospital for diagnosis was less than 15 days in more than half of the cases. The symptoms predominating and clinical features were paleness fever and adenomegalies. Basic laboratory and other studies were made in a initial period, phase I (CBS, urinalysis serum, urea serum creatinine, serum glutamic oxalacetic and piruvic transaminases, and coccidioidine skin test, monotest, ASL, cytomegalovirus and rubella antibodies, Sabin-Feldman test, VDRL and chest, abdominal and paranasal sinus x-Ray) we reached a definitive diagnosis with this laboratory methods in 41.2% of the cases. A percutaneous hepatic biopsy was a rewarding accurate diagnostic procedure in 19 of 21 patients. The diagnosis that we established in general groups were: infections diseases, oncologic disease, metabolic disturbances, primary unknown hepatic disease, hematologic disorders and congestive diseases. In this letter we want to show our experience in a second level pediatric hospital in a mexican province so that this work can be reviewed by other Physicians and they can offer a better attention for this patients.
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PMID:[Hepatosplenomegaly of unknown origin. A study of 63 cases]. 179 Aug 37

46-year-old male patient was born in Niigata Prefecture and thereafter lived in Tokyo. In late January 1985, he noticed swelling of the bilateral inguinal lymph-nodes followed by fever and lumbago. In February, he consulted a local doctor and hepatosplenomegaly, marked leukocytosis and renal dysfunction were pointed out and he was referred to our hospital on February 22nd. The clinical laboratory data on admission were as follows; WBC 23,200/microliter, serum-Ca 18.4 mg/dl, BUN 85.3 mg/dl, creatinine 5.4 mg/dl, antibody to ATLV x160. ATL was diagnosed by biopsy of lymph nodes and examinations of peripheral blood and bone marrow hemogram. Remission was achieved in March by the treatment with adriacin. Renal failure and hypercalcemia also improved. However his respiratory dysfunction gradually worsened. The chest radiographies++ showed pulmonary edema, although there was no clinical evidence of heart failure. When his condition became stable, TBLB was performed and revealed extensive deposition of calcium along alveolar septae, suggesting that pulmonary edema was induced by the metastatic calcification of the lung. After the second treatment for ATL, he died of pneumonia. The autopsy showed calcium deposition not only in the lung but in pyramids of the kidney and in sub-serous layer of the small intestine. There was no tumor cell invasion into the bone or parathyroid gland. High urinary c-AMP together with normal levels of PTH suggested that the hypercalcemia in this case was induced by PTH-related protein. It was concluded that careful treatment for hypercalcemia is important as regards the occurrence of pulmonary edema.
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PMID:[An autopsy case of adult T-cell leukemia complicated with metastatic calcification of the lung]. 204 Dec 50

Schistosomiasis mansoni has been well documented as one of the causes of infectious glomerulopathy, with mesangiocapillary glomerulonephritis being the most frequent lesion observed in this condition. Twenty-one patients with hepatosplenic schistosomiasis mansoni and biopsy-documented mesangiocapillary glomerulonephritis (MCGN) were studied and compared with 19 patients with the idiopathic form of MCGN. Nephrotic syndrome was the most frequent clinical presentation in both groups. At the time of diagnosis nine patients with hepatosplenomegaly (4 with associated arterial hypertension) and 12 (8 with arterial hypertension) among the patients with idiopathic MCGN had renal insufficiency. At the end of the follow-up period 16 patients with hepatosplenic schistosomiasis and MCGN (75.2 months) and 15 with the idiopathic form (52.1 months) had renal failure. Also, when compared at 48 months of follow-up, no difference in renal function could be detected in both groups. No benefits related to anti-parasitic treatment in the schistosomiasis group and immunosuppression therapy in either group could be documented. The progression of the renal disease, as assessed by the reciprocal of serum creatinine versus time, and the survival curve, were not different between the two groups. It is concluded that MCGN in patients with the hepatosplenic form of schistosomiasis mansoni is a progressive disease not influenced by anti-parasitic or immunosuppressive therapy, and presents a clinical course similar to that of the idiopathic form.
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PMID:Schistosoma mansoni-induced mesangiocapillary glomerulonephritis: influence of therapy. 250 87

Plasma cell leukemia (PCL) can be considered the leukemic variant of multiple myeloma. The diagnosis is based on hematological features, including a plasmacytosis exceeding 2 x 10(9)/l and any evidence of a clonal plasma cell proliferation. There are two forms of PCL: the primary form occurring in individuals without preceding multiple myeloma, and the secondary form arising as a late manifestation in patients with multiple myeloma. From 1974 to 1988 we diagnosed 8 primary PCL cases out of a total 301 multiple myeloma cases (incidence, 2.6%) and a total of 847 acute leukemia cases (incidence, 0.9%). During the same period we observed in 7 multiple myeloma patients a terminal PCL, for an incidence of PCL in myeloma of 2.3%. Most clinical characteristics were similar in both types of plasma cell leukemia. In particular we found no difference in the average age and in the incidence of bone pain, hepatosplenomegaly, lytic bone lesions. None of our cases showed a clinically relevant lymphadenopathy either as presenting symptom or during the course of the disease. The values for hemoglobin, leukocytes, plasma cells, serum creatinine and calcium did not differ significantly between the two groups of patients. The median survival was 7 months for patients with primary PCL and 1 month for patients with secondary PCL. 5 of the 8 patients with primary PCL obtained a response to conventional myeloma therapy including single alkylating agents, with a duration ranging from 7 to 44 months. Only 1 of the patients with secondary PCL had a partial response after combination chemotherapy.
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PMID:Plasma cell leukemia: a report on 15 patients. 269 96

A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid, a metabolic precursor of cholesterol and nonsterol isoprenes: 46,000 to 56,200 mmol per mole of creatinine, as compared with 0.2 to 0.3 mmol per mole in normal children. The mevalonic acid concentration in plasma was also greatly increased at 440 mumol per liter (normal, less than 0.05). The activity of mevalonate kinase, the enzyme that catalyzes the first step in mevalonate metabolism, was severely deficient in the patient's fibroblasts, lymphocytes, and lymphoblasts. In the subsequent pregnancy of the patient's mother, gas chromatography-mass spectrometry demonstrated a marked elevation of mevalonic acid in the mother's urine and a 3000-fold elevation, as compared with control levels in the amniotic fluid, suggesting that the fetus was affected. The diagnosis was confirmed by demonstration of the deficiency of mevalonate kinase in amniocytes and ultimately in liver from the abortus. Intermediate activities of the enzyme in both parents indicated an autosomal recessive mode of inheritance. These observations identify an inherited disorder of cholesterol and nonsterol isoprene biosynthesis in humans.
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PMID:Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. 301 38

Primary lymphoma of the kidney is extremely rare; most lymphomatous renal masses represent extension from adjacent sites of disease or involvement by generalized disease (4,9,12). Three men and one woman, 45 to 71 years of age, presented with solitary renal masses clinically thought to be renal cell carcinoma. Each experienced abdominal pain, one with hematuria and one with "B" symptoms. Physical examination revealed no peripheral lymphadenopathy or hepatosplenomegaly. Lactic dehydrogenase (LDH) was elevated in three cases, and blood urea nitrogen (BUN) and creatinine were slightly increased in two. Two cases were diagnosed correctly from needle biopsy, with ultrastructural confirmation in one case and marker studies, DNA flow cytometry, and cytogenetics in the other. Because of a presumptive diagnosis of renal cell carcinoma, two patients underwent nephrectomy. Three cases were large-cell lymphoma, and one, small noncleaved cell lymphoma.
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PMID:Malignant lymphoma presenting as a renal mass: four cases. 355 31


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