Crigler-Najjar syndrome type Ⅱ complicated with gallbladder stones:A case report and literature review
10.13481/j.1671-587X.20250324
- VernacularTitle:Crigler-Najjar综合征Ⅱ型伴胆囊结石1例报告及文献复习
- Author:
Xuechun WANG
1
;
Meng ZHANG
;
Qibo HU
;
Xin TIAN
;
Xue SHAO
;
Guanghua CHE
Author Information
1. 吉林大学第二医院儿科诊疗中心,吉林 长春 130022
- Keywords:
Child;
Crigler-Najjar syndrome;
Gallstones;
Genetic testing;
Autosomal recessive genetic disorder
- From:
Journal of Jilin University(Medicine Edition)
2025;51(3):785-789
- CountryChina
- Language:Chinese
-
Abstract:
Crigler-Najjar syndrome(CNS)is an autosomal recessive genetic disorder caused by mutations in the UGT1A1 gene.This author retrospectively analyzes the clinical data of one patient presenting with postnatal hyperbilirubinemia,who was genetically diagnosed with CNS.Her clinical course,genetic characteristics,diagnostic and therapeutic approaches are discussed to enhance clinicians'understanding of this condition.The patient exhibited recurrent jaundice due to elevated unconjugated bilirubin(UCB)levels since birth.During this period,the gallstones were identified and surgically removed,yet her bilirubin levels did not improve.In March 2024,the patient presented to our hospital and underwent genetic testing via a third-party facility.The results revealed two risk variants in the UGT1A1 gene.After one week of oral phenobarbital administration,her UCB levels decreased by approximately 47%,confirming a diagnosis of CNS type Ⅱ.The patient is currently under active follow-up with regular monitoring of bilirubin levels.For the infants and children presenting with persistent,fluctuating,non-hemolytic,and non-hepatitic hyperbilirubinemia since birth,early genetic testing should be prioritized to establish the definitive diagnosis.
