Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign recurrent intrahepatic cholestasis is a disorder described 3 decades ago. The literature describes at least 60 cases. This syndrome is characterized by attacks of jaundice with obstructive features recurring over a number of years. Though the etiology remains, obscure the coincidence in members of a family or brothers suggests that this may be a constitutional form of jaundice. We describe the case of a young man who presented two episodes of obstructive jaundice. The serologic tests were negative for hepatitis and the biopsy revealed a severe intrahepatic cholestasis without histologic inflammatory changes and preserved lobulillar architecture. Inquest of the family were negative, but parents were possibly related, this factor may be important if a genetic defect is implicated. We conclude that from the clinical biochemical and histological findings this case of jaundice is due to intermittent intrahepatic cholestasis. The most common causes of intrahepatic cholestasis--viral hepatitis and certain drugs--; can be ruled out in this patient. Finally we have to suspect this syndrome, even though very rare, when we have a patient as we described.
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PMID:[Recurrent benign familial intrahepatic cholestasis]. 253 51

Within the "primary" cholestasis we can discriminate "essential" forms due to an endogenous biochemical error of bile acid metabolism and/or secretion and "conditioned" forms, in which a known precipitating factor is required to elicit the functional disorder responsible for cholestasis. Among the essential forms of cholestasis must be included benign recurrent intrahepatic cholestasis or Summerskill-Walshe disease, Aagenaes disease, progressive familial intrahepatic cholestasis or Byler's disease, and forms due to disorders of the peroxisomes. Benign recurrent intrahepatic cholestasis, the best known form, is characterized by recurrent episodes of itching and jaundice with an acute onset separated by symptom-free intervals, which shows no tendency to progress to liver failure. The conditioned cholestasis group comprises cholestasis of pregnancy and drug-induced cholestasis. Benign recurrent cholestasis of pregnancy is a form induced "by" pregnancy and not a form occurring "in" pregnancy, such as cholestasis due to hepatitis, to primary biliary cirrhosis, to cholelithiasis. Drug-induced cholestasis is a chapter of great clinical relevance: forms due to steroid hormones and due to phenothiazines are discussed.
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PMID:[Intrahepatic cholestasis due to biochemical errors of bile acids. II. Clinical and therapeutic aspects]. 785 57

We present a patient with an initial and acute presentation of jaundice and marked persistent pruritus. Laboratory and radiology test results eliminated the possibility of acute hepatitis A/B/C viral infections, primary biliary cirrhosis, autoimmune hepatitis, Wilson disease, paraneoplastic cholestasis, and obstructive biliary disease. Centrilobular cholestasis was prominent in a liver biopsy specimen. Benign recurrent intrahepatic cholestasis (BRIC) was diagnosed through a review of the clinical history, available data, and the subsequent exclusion of other possible etiologies. The patient's clinical features resolved within 3 months of medical treatment.
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PMID:A patient with persistent pruritus. 2042 2

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.
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PMID:Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. 3089 97