منابع مشابه
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene
IntRoductIon Gilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)‐glucuronosyltransferase gene (UGT1A1).[1] Dubin‐Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in th...
متن کاملCholescintigraphy in Dubin-Johnson syndrome.
Hereditary or familial hiperbilirubinemia comprises a group of syndromes (Dubin-Johnson’s, Rotor’s, hepatic storage disease) in which hyperbilirubinemia, predominantly unconjugated or conjugated, occurs as an isolated biochemical abnormality without evidence of either hepatocellular necrosis or cholestasis. We present a patient with Dubin-Johnson syndrome, one of the familial disorders associat...
متن کاملDubin-Johnson syndrome.
A young man presented with recurrent episodes of mild jaundice. Apart from conjugated hyperbilirubinemia, other liver function tests were always normal. Clinical suspicion of Dubin-Johnson syndrome was raised. Liver biopsy showed diffuse deposition of coarse granular dark brown pigment in hepatocytes. Dubin-Johnson syndrome is a benign condition, which results from a hereditary defect in biliar...
متن کاملLucey-Driscoll syndrome Secretion of Dubin-Johnson syndrome
Cholestasis may be defined as stagnation of bile within the intrahepatic or extrahepatic biliary tree. Biochemically, there is retention of conjugated bilirubin, bile salts, and alkaline phosphatase; morphologically, there is at least dilatation of biliary canaliculi and loss of their microvilli, and later accumulation of bile pigment in the canaliculi (bile plugs)."0 The mechanism underlying t...
متن کاملDubin-Johnson syndrome presenting with neonatal cholestasis.
We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis. Liver histology was studied during the neonatal period and at 6 years of age. Distinct brownish pigment granules in hepatocytes were noted. This case confirms that Dubin-Johnson syndrome is a cause of neonatal cholestasis.
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2017
ISSN: 0366-6999
DOI: 10.4103/0366-6999.204108