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A rare case of Crigler–Najjar syndrome type 2: A case report and literature review
- Source :
- Clinical Case Reports, Vol 11, Iss 11, Pp n/a-n/a (2023)
- Publication Year :
- 2023
- Publisher :
- Wiley, 2023.
-
Abstract
- Key Clinical Message Crigler–Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone. Abstract Crigler–Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5′‐diphosphate‐glucuronosyltransferase (UGT) responsible for bilirubin conjugation. Typically, this condition is diagnosed based on clinical manifestations, supplemented by enzyme analysis if feasible, and exhibits a significant response to phenobarbitone, known for its enzyme‐inducing properties. In this case, we present a young male patient who had experienced recurrent isolated indirect hyperbilirubinemia since early childhood, with negative results in the hemolytic workup. The patient exhibited a UGT1A1 gene defect and demonstrated a highly favorable response to phenobarbitone treatment. The purpose of this report is to raise awareness among physicians about this benign condition and underscore the importance of avoiding unnecessary investigations.
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 11
- Issue :
- 11
- Database :
- Directory of Open Access Journals
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.83e12770c47928e006ec8b8b50181
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/ccr3.8176