Journal
BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY
Volume 24, Issue 5, Pages 555-571Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.bpg.2010.07.007
Keywords
Hepatobiliary transport; Gilbert syndrome; Glucuronidation; Genotyping; Drug toxicity; ABCC2; UGT1A1; Jaundice
Categories
Funding
- Deutsche Forschungsgemeinschaft (DFG) [TRR77, SFB621]
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Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson Rotor and Gilbert-Meulengracht syndromes which are important differential diagnoses indicating benign disease that require no immediate treatment Dubin-Johnson and Rotor syndromes are rare exhibit mixed direct and indirect hyperbilirubinemia as well as typical profiles or urinary coproporphyrin excretion Gilbert-Meulengracht disease leads to unconjugated hyperbilirubinemia because of impaired glucuronidation activity and is part of a spectrum of genetic variants also encompassing fatal Crigler-Najjar syndrome Gilbert-Meulengracht syndrome can be diagnosed by clinical presentation biochemistry and genotyping and carries significance regarding the disposition towards drug-associated toxicity In addition the precise diagnosis of these inherited hyperbilirubinemic syndromes avoids unnecessary invasive procedures for suspected more severe hepatobiliary disease (C) 2010 Elsevier Ltd All rights reserved
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