Byler's disease: Fatal intrahepatic cholestasis

Linarelli, Louie G.; Williams, C. N.; Phillips, M. J.

doi:10.1016/s0022-3476(72)80174-4

Cited by 125 publications

(49 citation statements)

References 20 publications

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“…In our patient, persistently increased serum BA followed intermittent episodes of biochemical evidence of cholestasis. Cholestyramine treatment for intermittent episodes of jaundice with severe pruritus was successful, as has been found previously (6,7,10).…”

Section: Discussionsupporting

confidence: 80%

Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease)

et al. 1992

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The second child of healthy unrelated parents presented with chronic diarrhoea since the age of two months, initially associated with non-characteristic liver involvement. Recurrent infections, severe failure to thrive and various metabolic deficiencies complicated the further course, as well as profuse watery diarrhoea with elevated regulatory gut peptides, responding only to somatostatin analog treatment. At 22 months of age, intermittent cholestasis with permanently normal serum gamma-glutamyltransferase was evident. The child died of fulminant purulent meningitis at the age of three years six months. Liver histology showed intrahepatic cholestasis, bile duct paucity with focal proliferation as well as slight portal and intralobular fibrosis. The clinical, biochemical and histopathological findings were indicative of Byler's disease.

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Section: Discussionsupporting

confidence: 80%

Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease)

et al. 1992

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“…As their name implies, these genetic abnormalities cause progressive cholestasis over the patient's lifetime that is generally associated with profound intractable pruritis. Left untreated, the disorders lead to cirrhosis and death before adolescence [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Nontransplant surgical interventions in progressive familial intrahepatic cholestasis

Davis

Rosenthal

Newman

2009

Journal of Pediatric Surgery

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“…However, their levels increase in several human hepatopathies, where they may either initiate or perpetuate the hepatic failure. Indeed, monohydroxylated BSs have been suggested to play a role in the liver dysfunction occurring in primary biliary cirrhosis [190], familial intrahepatic cholestasis type 1 (Byler disease) [191], total parenteral nutrition-induced cholestasis [192] and neonatal cholestasis [193].…”

Section: Monohydroxylated Bs-induced Cholestasismentioning

confidence: 99%

Silymarin as a New Hepatoprotective Agent in Experimental Cholestasis: New Possibilities for an Ancient Medication

Crocenzi¹,

Roma²

2006

CMC

100

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Silymarin is a purified extract from milk thistle (Silybum marianun (L.) Gaertn), composed of a mixture of four isomeric flavonolignans: silibinin (its main, active component), isosilibinin, silydianin and silychristin. This extract has been empirically used as a remedy for almost 2000 years, and remains being used as a medicine for many types of acute and chronic liver diseases. Despite its routinely clinical use as hepatoprotectant, the mechanisms underlying its beneficial effects remain largely unknown. This review addresses in detail a number of recent studies showing a novel feature of silymarin as a hepatoprotective drug, namely: its anticholestatic properties in experimental models of hepatocellular cholestasis with clinical correlate. For this purpose, this review will cover the following aspects: 1. The chemistry of silymarin, including chemical composition and properties. 2. The current clinical applications of silymarin as a hepatoprotective agent, including the mechanisms by which silymarin is thought to exert its hepatoprotective properties, when known. 3. The physiological events involved in bile formation, and the mechanisms of hepatocellular cholestasis, focusing on cellular targets and mechanisms of action of drugs used to reproduce experimentally cholestatic diseases of clinical interest, in particular estrogens and monohydroxylated bile salts, where anticholestatic properties of silymarin have been tested so far. 4. The recent findings describing the impact of silymarin on normal bile secretion and its novel, anticholestatic properties in experimental models of cholestasis, with particular emphasis on the cellular/molecular mechanisms involved, including modulation of bile salt synthesis, biotransformation/depuration of cholestatic compounds, changes in transporter expression/activity, and evocation of signaling pathways.

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Byler's disease: Fatal intrahepatic cholestasis

Cited by 125 publications

References 20 publications

Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease)

Progressive idiopathic cholestasis presenting with profuse watery diarrhoea and recurrent infections (Byler's disease)

Nontransplant surgical interventions in progressive familial intrahepatic cholestasis

Silymarin as a New Hepatoprotective Agent in Experimental Cholestasis: New Possibilities for an Ancient Medication

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