Genetic disorders leading to severe hyperlipidemia in children:A case report  

作　　者：Chun-Xin Jiang Yu-Lin Meng Dong Chen Lian-Ping Shi Guang Yang Yang Guo Bo Zhang Zi-Chen Zhai Zhi-Jian Wu Tie-Nan Liu Zhi-Jun Wang Xiao Tian Peng-Yu Su 

机构地区：[1]Department of Cardiology,North China University of Science and Technology Affiliated Hospital,Tangshan 063000,Hebei Province,China [2]Health Screening Section,North China University of Science and Technology Affiliated Hospital,Tangshan 063000,Hebei Province,China [3]Nutrition Section,North China University of Science and Technology Affiliated Hospital,Tangshan 063000,Hebei Province,China [4]Hemodialysis Center,North China University of Science and Technology Affiliated Hospital,Tangshan 063000,Hebei Province,China

出　　处：《World Journal of Clinical Cases》2025年第16期60-66,共7页世界临床病例杂志(英文)

基　　金：Natural Science Foundation of Hebei Province,China,No.H2020209160;Scientific Research Projects in Chinese Medicine of Hebei Province,China,No.2019168.

摘　　要：BACKGROUND Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems.Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism.This report describes a patient with Alagille syndrome in whom a JAG1 mutation was detected by whole-exome sequencing.CASE SUMMARY The patient presented with severe hypercholesterolemia,biliary and hepatic impairment,pruritus,and triangular facial features.Mutations in the JAG1 gene,which encodes the Notch signaling pathway,were detected by whole-exome sequencing,leading to a diagnosis of Alagille syndrome.The patient was treated using a combination of traditional Chinese and Western medicines.Her cholesterol levels,liver function,and pruritus subsequently improved.CONCLUSION The possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia.Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.

关 键 词：HYPERLIPIDEMIA Alagille syndrome Genetic mutation JAG1 CHOLESTASIS Low density lipoprotein cholesterol Traditional Chinese medicine Case report 

分 类 号：R57[医药卫生—消化系统]