A Rare Case Report of Crigler Najjar Syndrome Type II.
| Autor: | Abdul Raffay E; Internal Medicine, Services Institute of Medical Sciences, Lahore, PAK., Liaqat A; Internal Medicine, Services Institute of Medical Sciences, Lahore, PAK., Khan M; Internal Medicine, King Edward Medical University/Mayo Hospital, Lahore, PAK., Awan AI; Psychiatry and Behavioral Sciences, King Edward Medical University/Mayo Hospital, Lahore, PAK., Mand B; Internal Medicine, Services Institute of Medical Sciences, Lahore, PAK. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Jan 12; Vol. 13 (1), pp. e12669. Date of Electronic Publication: 2021 Jan 12. |
| DOI: | 10.7759/cureus.12669 |
| Abstrakt: | Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Abdul Raffay et al.) |
| Databáze: | MEDLINE |
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