progressive familial intrahepatic cholestasis
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis
... 2 Progressive Familial Intrahepatic Cholestasis (PFIC-2), also known as BSEP disease, is one of the genetically determined cholestatic diseases and results from mutations in ABCB11, which ...
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The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II
... of progressive familial intrahepatic cholestasis (PFIC) that is associated with mutations in the ABCB11 gene encoding the bile salt export pump ...
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Metabolic profiles and liver steatosis in children with liver transplantation for progressive familial intrahepatic cholestasis type 1
... Aims: Severe liver steatosis is common complication post-transplantation in patient with progressive familial intrahepatic cholestasis type 1 (PFIC1). We aimed to evaluate metabolic profiles ...
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Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients
... to Progressive Intrahepatic Cholestasis is ...presented. Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare congenital metabolic ...
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Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment
... Abstract: Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal reces- sive cholestatic liver diseases which are subgrouped according to the genetic defect, clinical ...
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Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
... injury. Cholestasis was defined in children as jaundice with itching and deranged liver function tests, and in neonates as jaundice with conju- gated bilirubin exceeding 20% of total serum bilirubin (or > ...
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Progressive familial intrahepatic cholestasis
... The first type, called PFIC1 (Byler disease) is caused by mutations in the ATP8B1 gene (also designated FIC1) [6,12]. This gene, which encodes a P-type ATPase, is located on human chromosome 18 and is also mutated in the ...
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Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
... making the hepatocanalicular membrane (CM) a rigid, liquid-ordered membrane [5,6]. In patients with PFIC1, the well-organized aminophospholipid asymmetry of the CM is disrupted by the impaired function of ATP8B1, leading ...
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PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
... conjugated hvperbilirubinemia, elevated alkaline phosphatase, normal cholesterol, slightly elevated transaminase, elevated serum bile salts, and hypo- glyceniia.. There was also evidence[r] ...
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Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations
... hepatocellular cholestasis, with moderate hepatocellular disarray, as well as evidence of chronicity, including moderate portal-tract and perisinusoidal ...recurrent intrahepatic cholestasis type 2 ...
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Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2
... Familial intrahepatic cholestasis syndromes comprise a group of liver diseases that are caused by the failure of hepatobiliary transporter ...with progressive familial ...
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Original Article De novo JAG1 gene deletion causes atypical severe Alagille syndrome in a Chinese child
... following: Cholestasis, congenital heart disease, vertebral abnormalities, characteristic facial fea- tures, and posterior ...with cholestasis and was initially referred to our ...(BA), progressive ...
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Original Article Application of high-throughput sequencing technologies with target capture/target next-generation sequencing in diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
... Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal re- cessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 ...with progressive ...
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Meconium Peritonitis and Increasing Sweat Chloride Determinations in a Case of Familial Progressive Intrahepatic Cholestasis
... tic fibrosis; they noted two infants with meconium peritonitis who had no signs of intestinal obstruc- tion, one of these had cystic fibrosis but the other did not. Donrnson et al7 have [r] ...
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The bile acid synthetic gene 3β hydroxy Δ5 C27 steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
... of several genes encoding enzymes that synthesize bile acids (3–5) or that actively transport these steroids across the canalicular membranes of the liver into the bile (6) often underlie familial cases of ...
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Mother’s intrahepatic cholestasis does not affect her daughter’s health
... Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder which usually manifests in the third trimester of gestation as skin itching especially on the palms and soles and as increased serum bile ...
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Ademetionine in patients with liver disease: a review
... The aim of the present review is to have an in-depth analysis of the published scientific literature relating to the clinical use of ademetionine in various etiologies of liver disease. Literature search was performed ...
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Pruritus in pregnancy
... Answer Although most cases of pruritus can be attributed to itchy dry skin, there are conditions unique to pregnancy that involve pruritus as a leading symptom. These include pemphigoid gestationis, pruritic urticarial ...
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Effect of Maternal Intrahepatic Cholestasis on Fetal Steroid Metabolism
... of cholestasis, these pregnanediol sulfates circulate in greatly elevated amounts in the maternal ...in cholestasis these steroids cross the placenta into the ...
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A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma
... We report the case of a 6-year-old boy with citrin deficiency and advanced hepatocellular carcinoma diagnosed by using imaging. He exhibited intrahepatic cholestasis 2 days after his birth and was ...
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