Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.
نویسندگان
چکیده
Dubin-Johnson syndrome is a rare benign inherited disorder, caused by mutations in ABCC2 gen, and it is characterized by predominantly conjugated hyperbilirubinemia that can be increased by intercurrent infectious illnesses or surgical procedures. We report the case of a 10 year-old patient who showed, after a surgical procedure for peritonitis due to appendicitis, jaundice and predominantly conjugated hyperbilirubinemia, and he was diagnosed with Dubin-Johnson syndrome by genetic testing.
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Hyperbilirubinemia is a common manifestation in internal medicine. It is divided to conjugated and unconjugated hyperbilirubinemia . Conjugated hyperbilirubinemia usually results from hepatocellular or cholestatic liver disease or from extrahepatic biliary obstruction. Isolated conjugated hyperbilirubinemia is the primary manifestation of two heritable disorders, Rotor and Dublin – Johnso...
متن کاملDubin-Johnson syndrome presenting after acute viral hepatitis
Elevated serum level of bilirubin is a common manifestation which is occurred in several diseases. Hyperbilirubinemia can manifest either conjugated or unconjugated. Conjugated or direct hyperbilirubinemia usually are caused by hepatocellular diseases or cholestatic liver diseases. Merely conjugated hyperbilirubinemia is the main manifestation of two congenital syndromes, including Dubin-Johnso...
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...
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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 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...
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ورودعنوان ژورنال:
- Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva
دوره 109 11 شماره
صفحات -
تاریخ انتشار 2017