Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 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

Storage of cholesterol, cholesterol esters, and triglycerides with distribution in different organs is characteristical in 5 distinguishable familiary thesaurismoses. Cholesterol storage disease is due to relatively benign storage of cholesterol esters predominantly in the liver with gross enlargment of this organ. Acid lipase is lysosomes is also nearly inactive in the maligne Wolman's disease with calcification of the adrenals, hepatosplenomegalia and death during infancy by gastrointestinal complications. Very similar are other diseases without renal calcification but partly with pulmonal storage of cholesterol. In only one family another type of cholesterol lipidosis and cirrhosis together with aplasia of gall bladder, renal cysts, and hydronephrosis has been observed. Two types of pure triglyceride storage disease are described, but each of them in only few cases. Tendinous xanthomatosis by storage of cholestanol predominantly in brain with mental retardation, and xanthomatosis with beta-sitosterol but normal mental development are two rare steatoses with abnormal cholesterol-like lipids, in which xanthomatas are visible.
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PMID:[Disease with storage of neutral lipids (author's transl)]. 703 73