التفاصيل البيبلوغرافية
| العنوان: |
A rare case of Crigler–Najjar syndrome type 2: A case report and literature review. |
| المؤلفون: |
Rijal, Divas1 (AUTHOR) rijaldivas@gmail.com, Rijal, Prabhat2 (AUTHOR), Bohare, Shyam Murti2 (AUTHOR), Chaudhari, Ashish Sanjay2 (AUTHOR), Dhungel, Mandip3 (AUTHOR), Agarwal, Mayank2 (AUTHOR), Bhatta, Pramish4 (AUTHOR), Dhakal, Tulsi Ram4 (AUTHOR), Bishwokarma, Anjali4 (AUTHOR), Kafle, Pooja1 (AUTHOR) |
| المصدر: |
Clinical Case Reports. Nov2023, Vol. 11 Issue 11, p1-6. 6p. |
| مصطلحات موضوعية: |
*LITERATURE reviews, *ENZYME deficiency, *SYMPTOMS, *SYNDROMES, *HYPERBILIRUBINEMIA |
| مستخلص: |
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. 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. [ABSTRACT FROM AUTHOR] |
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