Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign recurrent intrahepatic cholestasis (BRIC or Summerskill-Walshe-Tygstrup-syndrome) is a rare autosomal recessive form of liver disease, which usually becomes manifest in childhood. Characteristic are recurrent episodes of jaundice and itching of different duration. Number and duration of episodic attack and asymptomatic period develop individually. For diagnosis of BRIC following criteria are proposed: At least three episodes of severe jaundice and pruritus with biochemical evidence of cholestasis, normal intra-and extrahepatic bile ducts on cholangiography, absence of a factor known to produce intrahepatic cholestasis and symptom-free intervals of several months or years. Often the diagnosis of BRIC is made very late and patients have to suffer invasive investigations (explorative laparotomy). Because of the unknown pathophysiological mechanism there is no specific treatment. We report on a 53-year-old patient with jaundice, severe pruritus, vomiting, loss of hair and weight, extreme sleeplessness and intractable cough. At the onset of the attack an increase of serum bilirubin concentration and serum alkaline phosphatase was observed, whereas aspartate and alanine aminotransferase and gamma-glutamyltransferase were normal. Histological findings of liver biopsy revealed accumulation of bile plugs in bile canaliculi. The long-term follow-up of our patient confirms that the prognosis is good.
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PMID:[Follow-up of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome) over 46 years]. 965 5

Benign recurrent intrahepatic cholestasis is a rare autosomal recessive disorder characterized by repeated episodes of intense pruritus, profound elevations in serum alkaline phosphatase and bilirubin, with normal or nearly normal values for serum gamma-glutamyl transferase. Attack lasts from several weeks to months and resolve spontaneously. Between attacks patients remain asymptomatic for months to years. The disorder does not lead to progressive liver injury and is not fatal. Genetic studies have demonstrated that the disorder is the result of a mutation in ATP8BI, a gene that codes for the FIC1 (familial intrahepatic cholestasis) protein, which is also affected in other forms of familial intrahepatic cholestasis. It is believed this protein plays a role in bile acid secretion, in aminophospholid transport, and in maintaining fluidity of the cell membrane. Therapy is supportive and aimed at relieving pruritus and other complications of severe cholestasis until the episode resolves spontaneously.
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PMID:Benign recurrent intrahepatic cholestasis. 1506 97