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一例罕见的II型克里格勒-纳贾尔综合征病例报告。

A Rare Case Report of Crigler Najjar Syndrome Type II.

作者信息

Abdul Raffay Eusha, Liaqat Ayesha, Khan Maria, Awan Ali I, Mand Bakhat

机构信息

Internal Medicine, Services Institute of Medical Sciences, Lahore, PAK.

Internal Medicine, King Edward Medical University/Mayo Hospital, Lahore, PAK.

出版信息

Cureus. 2021 Jan 12;13(1):e12669. doi: 10.7759/cureus.12669.

Abstract

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.

摘要

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。

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