Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Supplemental dietary F has been shown to counteract P-induced nephrocalcinosis in female rats. In order to obtain information as to the specificity of this F effect, the effect of other halogens, namely Br and I, on P-induced nephrocalcinosis was studied in weanling female rats. Supplemental dietary Br (5.24 mmol/kg of diet) and I (1.43 mmol/kg of diet) did not influence P-induced nephrocalcinosis, whereas F at equimolar dietary concentrations had marked antinephrocalcinogenic activity. The halogens were added to the diets in the form of KBr, KI, and NaF; the diets were balanced for the kations with Cl salts. The addition of KI to the diet to a concentration of 5.24 mmol/kg caused pronounced growth retardation, decreased feed intake, hepatomegaly, and signs of lethargy. It is concluded that the protective effect of dietary F against P-induced nephrocalcinosis does not extend to other halogens.
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PMID:Dietary fluoride, unlike bromide or iodide, counteracts phosphorus-induced nephrocalcinosis in female rats. 172 78

A computerised, retrospective study of 818 patients with sarcoidosis was analysed to study the prognosis of each individual manifestation of the disease. The good prognosis of erythema nodosum, acute arthritis and bilateral hilar lymphadenopathy was confirmed, though 16 per cent of patients presenting with erythema nodosum pursued a chronic course. Cor pulmonale and nephrocalcinosis reflected the poorest prognosis while lupus pernio and sarcoidosis of the mucosa of the upper respiratory tract rarely resolved. Bone sarcoidosis also implied chronicity but in four of 31 patients there was no clinical evidence of disease activity two years after the initial diagnosis, although naturally the bone radiograph was still abnormal. Hepatomegaly carried a worse prognosis than splenomegaly, or indeed, than the finding of pulmonary mottling without hilar glands--a stage three chest radiograph.
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PMID:Prognostic factors predicting the outcome of sarcoidosis: an analysis of 818 patients. 665 15

Male, identical twins presented with hypotonia, hypoglycaemia, dysmorphic facies, feeding problems, discoloured stools, hepatomegaly, and nephrolithiasis. Elevated blood levels of very long-chain fatty acids and bile acids suggested a peroxisomal disorder. Plasmalogen biosynthesis in cultured fibroblasts was reduced. Morphologically distinct peroxisomes were undetectable in liver. Twin 1 suffered from nephrocalcinosis and severe infection, and died at 18 months of age. Twin 2 was blind and physically severely retarded with epilepsy, but survived up to the age of 5 years. Studies of the fatty acid composition of serum lipids showed barely detectable values of eicosapentaenoic (EPA) and docosahexaenoic acid (DHA). During long-term treatment with these n-3 fatty acids, started at age 10 months, the fatty acid profile of the serum lipids was improved or normalized. Since n-3 fatty acids are essential elements in normal development, notably of the nervous system, we suggest that treatment with EPA and DHA should be started as early as possible in general peroxisomal disorders.
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PMID:Generalized peroxisomal disorder in male twins: fatty acid composition of serum lipids and response to n-3 fatty acids. 976 2

An 18-month-old boy was admitted with fever, abdominal pain, and hepatomegaly. CT scan revealed dilatation of intrahepatic biliary radicals with central dot sign, bilateral nephrocalcinosis, multiple ureteric and urinary bladder stones and right-sided obstructive hydroureteronephrosis due to a ureterovesical calculus of about 1.5 cm. Liver biopsy showed early hepatic fibrosis.
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PMID:Caroli's syndrome with ureterovesical calculi in a young child. 2053 2

Primary hyperoxaluria (PH) is a rare genetic disorder characterized by overproduction of oxalate due to specific enzyme deficiencies in glyoxylate metabolism. The primary clinical presentation is in the form of recurrent urolithiasis, progressive nephrocalcinosis, end-stage renal disease, and systemic oxalosis. Herein, we present a case of PH who was diagnosed at 47 years of age after 6 years on hemodialysis. He presented with fatigue, anorexia, weight loss, and was found to have cachexia, diffuse edema, hepatomegaly, ascites, hypercalcemia, hyperphosphatemia, hypoalbuminemia, low parathyroid hormone levels, lytic and resorptive areas in the vertebrae, diffusely increased echogenity of the liver, multiple renal stones, and bilateral nephrocalcinosis. Bone marrow biopsy showed calcium oxalate crystals and crystal granulomas. The liver biopsy could not be performed. The absence of an identifiable reason for secondary forms, the severity of the clinical presentation, and pathological findings led to the diagnosis of PH2. He died while waiting for a potential liver and kidney donor. The presented case is consistent with the literature as he had renal stone disease in the third decade and end-stage renal disease in the fifth decade. Hypercalcemia was thought to be due to osteoclast-stimulating activity of macrophages constituting the granuloma. Erythropoietin-resistant anemia and hypothyroidism were thought to be due to accumulation of oxalate in the bone marrow and thyroid gland, respectively. It is very important to keep in mind the possibility of PH when faced with a patient with nephrocalcinosis and oxalate stone disease.
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PMID:Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism. 2211 29