Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0008370 (cholestasis)
 9,378 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.
 ...
PMID:[Follow-up of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome) over 46 years]. 965 5

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevated. PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The pathophysiology of PFIC type 1 is not well understood. PFIC types 2 and 3 are caused by transport defects in the liver affecting the hepatobiliary secretion of bile acids and phospholipids, respectively. Benign recurrent intrahepatic cholestasis (BRIC) is linked to a mutation in the same familial intrahepatic cholestasis 1 locus at chromosome 18. Defects of bile acid synthesis may be difficult to differentiate from these transport defects. Intrahepatic cholestasis of pregnancy (ICP) appears to be related to these cholestatic diseases. For example, heterozygosity in families with PFIC type 3 is associated with ICP, but ICP has also been reported in families with BRIC. In Dubin-Johnson syndrome there is no cholestasis; only the hepatobiliary transport of conjugated bilirubin is affected. This, therefore, is a mild disease, and patients have a normal lifespan.
 ...
PMID:Genetic cholestasis: lessons from the molecular physiology of bile formation. 1075 20

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19 subjects (7 affected members) of a BRIC family. Male-to-male transmission and the presence of affected females suggested autosomal dominant inheritance. Blood samples were collected after informed consent. Subjects were genotyped by using markers mapping to 18q and 2q24 region, respectively, where the genes FIC1 and FIC2 have been mapped. Segregation of haplotypes excluded the two regions in our family. These findings suggest further genetic heterogeneity of the origin of BRIC.
 ...
PMID:Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. 1114 65

Benign recurrent intrahepatic cholestasis is a rare autosomal recessive disorder characterized by repeated episodes of intense pruritus and jaundice. Patients are completely asymptomatic for months to years between symptomatic periods. We report a case of a patient with a 7-year history of benign recurrent intrahepatic cholestasis. During the follow-up period the patient has suffered three attacks of cholestasis, confirmed by biochemical tests and histological exam. Liver enzymes were normal between the cholestasis episodes. Despite multiple attacks of cholestasis, no permanent liver damage has occurred. Although the diagnosis of benign recurrent intrahepatic cholestasis is rare, it should be included in the evaluation of a patient with cholestasis. The patients should be reassured of the benign course of this disorder.
 ...
PMID:[Benign recurrent intrahepatic cholestasis: a seven-year follow-up report]. 1146 Jun 4

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease, characterised by intermittent attacks of cholestasis, which can start at any age and last for several weeks to months. Characteristically serum GGT activity is low and normal liver structure is preserved. Progressive familial intrahepatic cholestasis (PFIC) is another liver disease, characterised by severe cholestasis, starting almost invariably before 6 months of age. All patients progress to cirrhosis, liver failure and death, unless a liver transplantation is performed. We now identified four patients who presented in childhood with recurrent attacks of cholestasis, while in the course of the disease the cholestasis gradually became permanent. Although liver biopsies performed in the early stages of the disease showed normal liver architecture, late stage biopsies revealed evident fibrosis with porto-portal septa formation. In conclusion, the disease of these patients started with the clinical and histopathological characteristics of BRIC but progressed to PFIC.
 ...
PMID:Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. 1186 91

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.
 ...
PMID:Benign recurrent intrahepatic cholestasis. 1506 97

Benign recurrent intrahepatic cholestasis (BRIC) is a rare inherited liver disease characterized by recurrent attacks of severe cholestasis with no progression to end stage liver disease. Patients have jaundice, however, serum gamma-glutamyltransferase and cholesterol levels remain within the normal range during the attacks. Three mutations in the familial intrahepatic cholestasis 1 (ATP8B1) gene encoding a P-type ATPase have been reported so far in patients with the autosomal recessive form of BRIC. A novel rare type insertion-deletion mutation, also called indel, was found in exon 24 of ATP8B1 in our patient together with a known missense mutation 1982T>C in exon 17. The mechanism of the indel formation is proposed and impact of the indel mutation on the function of ATP8B1 protein is discussed.
 ...
PMID:Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. 1534 67

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive condition characterized by intermittent episodes of pruritus and jaundice that may last days to months. Treatment is often ineffective and symptoms, particularly pruritus, can be severe. Extracorporeal albumin dialysis (molecular adsorbent recycling system, MARS) is a novel treatment which removes albumin bound toxins including bilirubin and bile salts. We describe a case of a 34-year-old man with BRIC and secondary renal impairment who, having failed standard medical therapy, was treated with MARS. The treatment immediately improved his symptoms, renal and liver function tests and appeared to terminate the episode of cholestasis. We conclude that MARS is a safe and effective treatment for BRIC with associated renal impairment.
 ...
PMID:Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. 1582 52

Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spontaneously resolve. These genetic disorders have significantly helped to unravel the basic mechanisms of the canalicular bile transport processes. Progressive familial intrahepatic cholestasis type 1 involves a gene also linked to benign recurrent intrahepatic cholestasis. The gene codes for an aminophospholipid translocase protein that maintains the integrity of the membrane. How a mutation in this protein causes cholestasis is unknown but is thought to involve the enterohepatic recirculation of bile acids. Progressive familial intrahepatic cholestasis types 2 and 3 involve the canalicular bile salt export pump and a phospholipid translocase, respectively, both of which are fundamental to bile secretion. This review covers the clinical manifestations, genetics, treatment and mechanism of each disease.
 ...
PMID:Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters. 1594 26

Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis in children. The disease may start in infancy or early childhood. Jaundice persists or recurs throughout life but does not lead to chronic liver disease or cirrhosis. Treatment is mostly symptomatic. The condition has not been reported in Indian children. We report an interesting case of BRIC in a 9-year-old boy who had recurrent episodes of jaundice since when he was 1 yr old.
 ...
PMID:Benign recurrent intrahepatic cholestasis. 1618 84


<< Previous 1 2 3 4 Next >>