Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008370 (cholestasis)
 9,378 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

A 60 years old woman was admitted for jaundice and fever which appeared after a treatment with ajmaline-butabarbital for two-weeks. Abdominal ultrasound examination and endoscopic retrograde cholangiography were normal. Mitochondrial antibodies were absent. Jaundice persisted for three years, associated with diffuse cutaneous xanthomatosis. Five years later, alkaline phosphatases remained elevated. A liver biopsy showed vanishing interlobular bile ducts with centrolobular cholestasis and ductular proliferation. We suggest that ajmaline can induce long lasting cholestasis due to damage to the intrahepatic bile ducts. The responsibility of butabarbital and the relationship with primary biliary cirrhosis are discussed.
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PMID:[Prolonged hepatitis due to ajmaline--description of a case and review of the literature]. 256 14

The Watson-Alagille syndrome is a distinctive type of congenital cholestasis, in which hepatic ductular hypoplasia is associated with various ocular, bony, and cardiac anomalies, often with a characteristic facies. The prognosis is surprisingly good, and we present a 26-year-old woman with this syndrome in whom intense pruritus and xanthomatosis had been prominent during infancy but had subsequently cleared completely. The recognition of this syndrome in a young child with cholestatic jaundice may obviate the need for a diagnostic laparotomy.
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PMID:Xanthomas in the Watson-Alagille syndrome. 310 38

This study was conducted on a group of 45 sickle cell anaemia (HbSS) patients and 45 age- and sex-matched controls with normal haemoglobin (HbAA) to determine the effect of anaemia due to genetic red cell defects on the value of cholesterol and triglyceride in plasma. The cholesterol level was found to be lower in the sickle cell anaemia patients compared with normals, and the difference in the level of cholesterol in the two groups was found to be statistically significant. A positive correlation was found between the haemoglobin level and the level of cholesterol. Since increase in cholesterol level increases the incidence of arteriosclerosis, coronary heart diseases, cholestasis and xanthomatosis, the patients with sickle cell anaemia may be at an advantage in having a protection against these disorders.
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PMID:Cholesterol and triglyceride level in patients with sickle cell anaemia. 360 13

We report two cases of gastric xanthomatosis which developed in patients with marked cholestasis. In both cases, one with acute and one with chronic cholestasis, the gastric xanthomas disappeared with resolution of the cholestasis. A review of the literature is also provided.
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PMID:Gastric xanthomatosis and cholestasis. A causal relationship. 373 84

A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations. In the complete form of the syndrome, all five features are observed. Four or less of these characteristics are present in the incomplete or partial forms of this syndrome. Other, less frequent characteristics (growth retardation, mental retardation, renal and bone abnormalities as well as a high-pitched voice) have also been observed. An autosomal dominant mode of genetic transmission with variable penetrance seems likely. Therapy consists of nutritional supplementation of medium-chain triglycerides, essential fatty acids and fat-soluble vitamins. Liver transplantation has been used successfully to treat patients with liver failure, portal hypertension or severe pruritus and xanthomatosis.
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PMID:Alagille syndrome today. 888 70