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[The Dubin-Johnson syndrome: case report and review of literature].
Acta Gastroenterol Latinoam
September 2008
Servicio de Gastroenterología-Sección de Hepatología, Hospital Profesor Rodolfo Rossi, Ciudad de La Plata, Provincia de Buenos Aires, Argentina.
The Dubin-Johnson syndrome is a hereditary deficiency in the excretion ofconjugated bilirrubin by hepatocytes characterized by chronic hyperbilirubinemia, alteration in coproporphyrin metabolism, and intracellular deposition of a dark melanin-like pigment giving the liver a typical black cast. We report a 28-year-old male patient who presented conjunctival jaundice and conjugated-hyperbilirubinemia without no other alteration in hepatic biochemistry. The diagnosis of this syndrome was perfomed by using the low-risk methods of laparoscopy-facilitated hepatic biopsy and oral cholecystography In contrast, we avoided the classical Bromsulphalein test because of potential severe side effects.
View Article and Find Full Text PDFRotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump.
Liver Int
May 2007
Institute of Inherited Metabolic Diseases, Charles University 1st Faculty of Medicine, Prague, Czech Republic.
Background: The cause of Rotor syndrome (RS), a rare-familial conjugated hyperbilirubinaemia with normal liver histology, is unclear. We hypothesized that RS can be an allelic variant of Dubin-Johnson syndrome, caused by mutation in ABCC2, and investigated ABCC2 (gene) and ABCC2 (protein) in two patients with RS.
Methods: A 57-year-old male presented with a 5-year history of predominantly conjugated hyperbilirubinaemia (170 micromol/l).
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Gastroenterology
July 2005
Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Background & Aims: Dubin-Johnson syndrome is recessively inherited, conjugated hyperbilirubinemia induced by mutations in the ABCC2/MRP2 gene encoding the canalicular transporter for conjugated bilirubin. Gilbert's syndrome is recessively inherited, unconjugated hyperbilirubinemia caused by decreased conjugation rate of bilirubin associated mostly with homozygous A(TA) 7 TAA variant of the TATAA-box in the UGT1A1 gene promoter. Our aim was to establish the molecular diagnosis in a 3-year-old male with atypical, intermittent, predominantly unconjugated, hyperbilirubinemia.
View Article and Find Full Text PDFCholescintigraphy in Dubin-Johnson syndrome.
Nucl Med Rev Cent East Eur
January 1999
Institute of Nuclear Medicine, Clinical Center of Serbia.
99mTc-HIDA cholescintigraphy in children with Dubin-Johnson syndrome.
J Pediatr Gastroenterol Nutr
May 1983
Tc-HIDA cholescintigraphy in Dubin-Johnson syndrome (DJS) demonstrates intense prolonged homogeneous visualization of the liver, together with delayed visualization of the gall bladder and extrahepatic ducts. Such a cholescintigram has not been described for any other hyperbilirubinemic state. Because it is a noninvasive and easy technique, it is recommended for the evaluation of children suspected of having DJS.
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