A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants
Phi Tran, Andrea Grimbergen, Megan Lewis, Ruiyang Yi, Christopher Williams
TL;DR
This paper presents a rare case of indirect hyperbilirubinemia caused by multiple UGT1A1 gene variants, highlighting the complexity of this condition.
Contribution
The novelty lies in the rare presentation of multiple UGT1A1 gene variants contributing to indirect hyperbilirubinemia.
Findings
The patient exhibited indirect hyperbilirubinemia due to multiple UGT1A1 gene variants.
The case highlights the complexity of interpreting multiple UGT1A1 gene variants in clinical settings.
Abstract
Indirect hyperbilirubinemia is a common clinical finding and rarely can be attributed to Crigler-Najjar syndrome type 2 or Gilbert syndrome. This case displays a rare presentation of indirect hyperbilirubinemia in a patient with multiple UGT1A1 gene variants. We aim to discuss the complexity of multiple UGT1A1 gene variants and its effect on the degree of observed hyperbilirubinemia.
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsNeonatal Health and Biochemistry · Heme Oxygenase-1 and Carbon Monoxide · Hemoglobinopathies and Related Disorders