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 aim of this study was to determine the relative frequency of type Ia in glycogen storage disease (GSD) with prominent liver involvement and to determine its clinical and laboratory findings and prognosis in Turkish children. From 1980 to 1998, 45 out of 100 GSD patients (27 male) with liver involvement had been diagnosed for type Ia. The files were retrospectively evaluated and clinical and laboratory features were documented. In addition to routine laboratory evaluations, urine albumin, calcium excretions, and plasma biotinidase activity were measured. Breast-feeding was continued in all infants. After 6 months of age, uncooked cornstarch was administered to the patients. The relative frequency of type Ia in GSD with liver involvement was 45%. The diagnosis was made in 71% of patients before 2 years of age (median 1 year). Main complaint was abdominal protruding (57.8%), and main physical finding was hepatomegaly (100%). Forty percent of the patients had growth retardation at diagnosis. Among laboratory parameters, hypertriglyceridemia (97.8%) and hypertransaminasemia (95.6%) were the most frequent findings following plasma biotinidase activity, which was elevated in all patients. Microalbuminuria was determined in 52.8% of the patients and hypercalciuria in 23.8%. Histopathological findings of the liver included fibrosis (75.6%), steatosis (37.8%), mosaicism (24.4%) and nuclear hyperglycogenation (15.6%). During follow-up period, the ratio of patients with growth retardation did not change. Transaminases were decreased in 48.7% of the patients. Although triglyceride and cholesterol levels decreased in the majority of the patients, they did not normalise. The prevalence of type Ia in GSD with prominent liver involvement was found higher than the other reports. Microalbuminuria was also higher than the previous reports.
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PMID:Glycogen storage disease type Ia: frequency and clinical course in Turkish children. 1095 34

Malaria is an infectious disease of great importance for Public Health, as it is the most prevalent endemic disease in the world, affecting millions of people living in tropical areas of the globe. Kidney involvement is relatively frequent in infections by P. falciparum and P. malariae, but has also been described in the infection by P. vivax. Kidney complications in malaria mainly occur due to hemodynamic dysfunction and immune response. Liver complications leading to hepatomegaly, jaundice and hepatic dysfunction can also contribute to the occurrence of acute kidney injury. Histologic studies in malaria also evidence glomerulonephritis, acute tubular necrosis and acute interstitial nephritis. It is also possible to find chronic kidney disease associated with malaria, mainly in those patients suffering from repeated episodes of infection. Plasmodium antigens have already been detected in the glomeruli, suggesting a direct effect of the parasite in the kidney, which can trigger an inflammatory process leading to different types of glomerulonephritis. Clinical manifestations of kidney involvement in malaria include proteinuria, microalbuminuria and urinary casts, reported in 20 to 50% of cases. Nephrotic syndrome has also been described in the infection by P. falciparum, but it is rare. This paper highlights the main aspects of kidney involvement in malaria and important findings of the most recent research addressing this issue.
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PMID:Kidney involvement in malaria: an update. 2879 22