Isolated unconjugated hyperbilirubinemia in adults: the Gilbert’s versus Criggler Najar Syndrome Type 2 conundrum.

نویسندگان

چکیده

Gilbert’s syndrome is a genetic disorder characterised by non-hemolytic unconjugated hyperbilirubinemia. It caused mutations in the UGT1A1 gene which codes for enzyme uridine diphosphate glucoronosyl transferase-1, conjugates bilirubin excretion. Affected individuals are usually asymptomatic apart from mild jaundice and investigations reveal isolated indirect This may be exacerbated face of environmental physical stressors. very similar presentation to Criggler-Najjar (CNS) type 2. There small risk kernicterus patients with CNS 2 needing daily phenobarbitone therapy. miniscule syndrome. Genetic testing polymorphisms diagnostic clincher syndrome, but it can also picked up evaluating response fasting, particularly resource poor settings. Due limited availability, case reports documenting mutational analysis sparse. We reported one such rare an unusually high hyperbilirubinemia confirmed both analysis.

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ژورنال

عنوان ژورنال: Turkish journal of internal medicine

سال: 2022

ISSN: ['2687-4245']

DOI: https://doi.org/10.46310/tjim.1088059