Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease

作     者：Cong-Huan Shen Zheng-Xin Wang 

作者机构：Department of General SurgeryAffiliated Huashan Hospital of Fudan University796 Jiang Su RoadShanghai 200040China 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2018年第14卷第4期

页      面：414-415页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：This study was supported by the Natural Science Foundation of China(81773089) 

主　　题：Liver transplantation cerebrotendinous xanthomatosis end-stage liver disease 

摘      要：Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by an increase in plasma concentrations of cholestanol and storage of sterols in mul-tiple tissues, especially tendons and the nervous system (1)Neonatal cholestatic jaundice has been rarely reported, but patients may progress to cirrhosis if effective treatment is not provided. Mutations in theCYP27A1 gene leads to decreased synthesis of bile acid, excessive production of cholestanol, and consequent accumulation of cholestanol in tissues in patients with CTX (2)The liver is rarely affected in these patients;however, neonatal cholestatic jaundice can be self-limiting. Reports on liver transplantation for CTX are lacking. Liver transplantation not only cures the liver disease, but also introduces the normalCYP27A1 gene into the patient, which can be potentially beneficial.