II型克里格勒-纳贾尔综合征：一例病例报告及文献综述。

Type II Crigler-Najjar syndrome: a case report and literature review.

作者信息

He Tao, Geng Xiaoling, Zhu Lei, Lin Xue, Wang Lixia

机构信息

Department of Gastroenterology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.

出版信息

Front Med (Lausanne). 2024 May 9;11:1354514. doi: 10.3389/fmed.2024.1354514. eCollection 2024.

DOI:10.3389/fmed.2024.1354514

PMID:38784231

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11112071/

Abstract

BACKGROUND

Crigler-Najjar syndrome (CNS) is caused by mutations in uridine 5'-diphosphate glucuronyltransferase (UGT1A1) resulting in enzyme deficiency and hyperbilirubinemia. Type II CNS patients could respond to phenobarbital treatment and survive. This study presents a rare case of type II CNS.

CASE SUMMARY

The proband was a 29-year-old male patient admitted with severe jaundice. A hepatic biopsy showed bullous steatosis of the peri-central veins of the hepatic lobule, sediment of bile pigment, and mild periportal inflammation with normal liver plate structure. The type II CNS was diagnosed by routine genomic sequencing which found that the proband with the Gry71Arg/Tyr486Asp compound heterozygous mutations in the UGT1A1 gene. After treatment with phenobarbital (180 mg/day), his bilirubin levels fluctuated between 100 and 200 μmol/L for 6 months and without severe icterus.

CONCLUSION

Type II CNS could be diagnosed by routine gene sequencing and treated by phenobarbital.

摘要

背景

克里格勒 - 纳贾尔综合征（CNS）由尿苷5'-二磷酸葡萄糖醛酸转移酶（UGT1A1）突变引起，导致酶缺乏和高胆红素血症。II型CNS患者对苯巴比妥治疗有反应且可存活。本研究报告了1例罕见的II型CNS病例。

病例摘要

先证者为一名29岁男性患者，因严重黄疸入院。肝脏活检显示肝小叶中央静脉周围大泡性脂肪变性、胆色素沉着以及轻度汇管区炎症，肝板结构正常。通过常规基因组测序诊断为II型CNS，发现先证者的UGT1A1基因存在Gry71Arg/Tyr486Asp复合杂合突变。给予苯巴比妥（180mg/天）治疗后，其胆红素水平在6个月内波动于100至200μmol/L之间，且无严重黄疸。