Abdul Raffay Eusha, Liaqat Ayesha, Khan Maria, Awan Ali I, Mand Bakhat
Internal Medicine, Services Institute of Medical Sciences, Lahore, PAK.
Internal Medicine, King Edward Medical University/Mayo Hospital, Lahore, PAK.
Cureus. 2021 Jan 12;13(1):e12669. doi: 10.7759/cureus.12669.
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.
克里格勒 - 纳贾尔综合征是一种先天性代谢紊乱疾病，由尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）基因五个外显子之一的点突变引起，该基因产物负责通过胆汁清除胆红素。据报道，有许多与克里格勒 - 纳贾尔综合征相似的高胆红素血症疾病，但它们的非结合胆红素水平和对治疗的反应有所不同。在此，我们报告一名14岁男性患者，因呕吐和频繁扁桃体炎入院。进一步检查发现，他自出生就患有黄疸，且有类似疾病的家族史。本报告讲述了一例极其罕见的II型克里格勒 - 纳贾尔综合征病例以及对该病症的管理，旨在为患者提供健康的生活方式。
