Research advances in the treatment of Crigler-Najjar syndrome
10.3969/j.issn.1001-5256.2023.04.035
- VernacularTitle:Crigler-Najjar综合征的治疗进展
- Author:
Wenyan ZHANG
1
,
2
;
Guohong DENG
2
Author Information
1. School of Life Sciences, Chongqing University, Chongqing 404100, China
2. Department of Infectious Diseases, The First Affiliated Hospital of Army Medical University, Chongqing 400038, China
- Publication Type:Review
- Keywords:
Crigler-Najjar Syndrome;
Phototherapy;
Plasma Exchange;
Drug Therapy;
Liver Transplantation;
Cell Transplantation;
Genetic Therapy
- From:
Journal of Clinical Hepatology
2023;39(4):974-979
- CountryChina
- Language:Chinese
-
Abstract:
Crigler-Najjar syndrome (CNS) is an autosomal recessive disorder in which the content of plasma unconjugated bilirubin is increased due to the reduction or complete deficiency of the activity of bilirubin uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), classified as CNS type Ⅰ and Ⅱ. CNS type Ⅰ is the most severe, which will develop into kernicterus, damage the brain nervous system, and even threaten the life of patients. This article introduces six CNS treatment techniques, including phototherapy, plasma exchange, drug therapy, liver transplantation, hepatocyte transplantation and gene therapy. The applicable patient types, treatment effects and existing deficiencies of each technique were summarized. Phototherapy, plasma exchange, drug therapy and hepatocyte transplantation can temporarily control serum levels and reduce the risk of jaundice, but cannot completely restore UGT1A1 enzyme activity; liver transplantation is currently the only treatment option for CNS type Ⅰ patients, but is limited by suitable liver donors and post-operative immune rejection. Gene therapy has the most promising application in the treatment of genetic disorders such as CNS, which can provide more viable therapeutic techniques for CNS patients.
