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)

Benign recurrent cholestasis. Report of three cases. 3 cases of benign intrahepatic recurrent cholestasis are reported. The disease is very rare and both clinical and pathological features are necessary for the right diagnosis. The value of liver biopsy in excluding other icteric diseases is stressed; clinical and serological findings are also important for the diagnosis and for the management of the patient.
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PMID:[Recurrent benign intrahepatic cholestasis. Description of 3 cases]. 174 80

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

Benign recurrent intrahepatic cholestasis is characterized by attacks of cholestasis. The purpose of our study of 26 patients was to emphasize some features uncommonly or never reported in this disease: (a) in each patient, the attacks of cholestasis were stereotypic; (b) attacks of cholestasis were not associated with pruritus in 15% of our patients; (c) the occurrence of attacks of cholestasis during pregnancy or oral contraceptive use might be a fortuitous coincidence; (d) gallstones were found in several patients with benign recurrent intrahepatic cholestasis and might be present earlier than in the general population; (e) in some of our patients, during attacks of cholestasis, serum transaminases were very high, exceeding 15 times the upper limit of normal; (f) mild portal inflammatory infiltration was found in one third of our patients; (g) no treatment shortened the duration of cholestasis, and in a few patients, plasmapheresis seemed to diminish jaundice and improve biochemical disorders.
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PMID:Benign recurrent intrahepatic cholestasis. A report of 26 cases. 279 32

Benign recurrent intrahepatic cholestasis (BRIC) or Summerskill's disease is a rare affection characterized by recurrent episodes of cholestasis of no apparent cause, separated by totally asymptomatic remissions. No specific treatment exists for the disease, and plasma exchange (PE) was proposed for disabling episodes affecting the general condition of two patients: one by two sessions of 4 and 13 exchanges during two episodes respectively (mass exchanged 14 and 35.5 l) and the other by 3 exchanges (total exchanged 4.5 l) during one episode. Improvement in clinical symptomatology and shortening of duration of two cholestatic episodes was noted when PE was carried out at an early stage. Bile acids were purified satisfactorily (42 to 52%), 0.15 to 1.17 mmole being extracted at each acute attack. Although difficult to assess in a rare affection such as this, PE appears to contribute to the symptomatic treatment of BRIC acute episodes if performed early enough, shortening their duration by the probable purification of circulating factors that are cholestatogenic as in primary biliary cirrhosis.
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PMID:[The value of plasma exchange during flare-ups of benign recurrent intrahepatic cholestasis]. 324 88

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.
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PMID:Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. 767 55

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

Benign recurrent intrahepatic cholestasis (BRIC) is a form of cholestasis of obscure aetiology characterized by recurrent episodes of jaundice and itching associated with a morphological picture of pure intrahepatic cholestasis. No effective treatment has yet been found among the many that have been proposed and the invariably benign nature of the condition has been questioned. A case of BRIC followed for a period of 20 years is described. This case is of great interest from these two points of view: 1) the histologic and electron microscopic findings 23 and 41 years after the first episode of cholestasis, respectively, failed to reveal evidence of the possible future development of cirrhosis; 2) treatment with ursodeoxycholic acid proved ineffective both therapeutically and in the prevention of episodes of bile stasis: on the contrary, calculosis of the common bile duct appeared after 8 months from the onset of the treatment.
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PMID:Benign recurrent intrahepatic cholestasis. Some reflections on a case followed for 20 years. 853 77

Benign recurrent intrahepatic cholestasis (BRIC) is a syndrome characterized by recurrent episodes of cholestasis with associated pruritus. The intensity and duration of cholestatic episodes, and the length of the intervening periods, vary unpredictably. We report the case of a patient with BRIC who was incapacitated by a severe intractable cough that accompanied marked pruritus during her second cholestatic episode. No cause for the cough was found, and it resolved spontaneously with amelioration of mild restrictive abnormalities of pulmonary function as the cholestasis subsided. Although cough has not been recognized as a complication of cholestasis, we postulate that it may occur either (i) as a result of direct stimulation of sensory nerves by circulating humoral substances related to the cholestasis that act either peripherally in the airways or centrally, or (ii) through stimulation of the vagus nerve in the liver, leading to cough that is mediated either centrally or by reflex.
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PMID:Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. 885 52

Benign recurrent intrahepatic cholestasis is a rare disorder of unknown etiology and has not yet been reported in Taiwan. We report a case with a typical clinical course. A 17-year-old Taiwanese boy had three episodes of pruritus and jaundice from February 1993 to July 1995, each lasting 3 to 4 months. Jaundice spontaneously subsided and he was symptom-free during periods of remission. A fourth episode of pruritus began in July 1995, with jaundice developing later and lasting for 3 months. Laboratory tests revealed direct hyperbilirubinemia. Endoscopic retrograde cholangiopancreatography showed normal intra- and extrahepatic biliary trees. Light microscopy of a liver biopsy sample revealed hepatocellular and canalicular cholestasis with bile retention in the Kupffer cells. Benign recurrent intrahepatic cholestasis was diagnosed after exclusion of other possible causes of jaundice. The patient made an uneventful recovery.
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PMID:Benign recurrent intrahepatic cholestasis. 917 Aug 26

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. The gene was previously assigned to chromosome 18q21, using a shared segment analysis in three families from the Netherlands. In the present study we report the linkage analysis of an expanded sample of 14 BRIC families, using 15 microsatellite markers from the 18q21 region. Obligate recombinants in two families place the gene in a 7-cM interval, between markers D18S69 and D18S64. All intervening markers had significant LOD scores in two-point linkage analysis. Moreover, we identified one family in which the BRIC gene seems to be unlinked to the 18q21 region, or that represents incomplete penetrance of the BRIC genotype.
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PMID:Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. 927 59


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