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)

Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
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PMID:[Alagille's syndrome in Cuba. A report of 9 cases]. 134 Aug 42

Previous studies have suggested that reduction of dietary fat intake, with or without caloric restriction, may lead to improvement in certain of the characteristic abnormalities that accompany total lipodystrophy (TLD). We have studied the effects of eucaloric medium chain triglyceride (MCT) substitution for dietary long chain fatty acids in a patient with acquired total lipodystrophy and unusual somatic and visceral anomalies. The patient exhibited insulin resistance, carbohydrate intolerance, striking fasting- and glucose-stimulated hyperinsulinemia, hyperglucagonemia, type V hyperlipoproteinemia, and lipoprotein lipase deficiency on a normal diet. Improvement in chylomicronemia, hypertriglyceridemia, and xanthomatosis occurred during eucaloric MCT substitution. Carbohydrate intolerance decreased and fasting immunoreactive glucagon and insulin concentrations fell 37% and 83%, respectively. Plasma triglyceride polyunsaturated fatty acid concentrations decreased to very low levels. With long term MCT feeding supplemented by polyunsaturated fatty acids, hepatomegaly has gradually decreased, while body weight has remained stable. The patient has not yet required insulin therapy. These observations suggest that the abnormalities in carbohydrate metabolism are closely linked to, and perhaps dependent on, the abnormalities in lipoprotein transport in TLD. Long chain triglyceride restriction and MCT supplementation should be attempted in additional patients with the features of TLD to determine whether this is a generally effective therapeutic approach.
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PMID:Eucaloric substitution of medium chain triglycerides for dietary long chain fatty acids in acquired total lipodystrophy: effects on hyperlipoproteinemia and endogenous insulin resistance. 634 62

Glycogen storage diseases (GSDs) or glycogenoses comprise several rare inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. We report on a male patient with type Ia GSD (GSD Ia) who was followed-up for more than 20 years. He had been diagnosed with GSD Ia based on biochemical tests and the glucose-6-phosphatase (G6Pase) enzyme assay from a liver biopsy at 6 years old, due to problems of hepatomegaly, growth retardation, and recurrent hypoglycemic episodes. The introduction of uncooked cornstarch improved his quality of life only in the first 8-year follow-up period. At 17 years old, gouty arthritis with multiple tophi and generalized xanthomatosis developed. Later, hepatocellular adenoma, nephrolithiasis, and gastrointestinal bleeding occurred at the age of 20, 23, and 24 years, respectively. At 26 years old, he suffered from acute renal failure and polyradiculoplexopathy. The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and highlights the need for careful dietary therapy and long-term follow-up.
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PMID:A 20-year follow-up of a male patient with type Ia glycogen storage disease. 1284 28