Shwachman⁃Diamond综合征肝脏病变研究进展  

Recent Progress in Hepatic Involvement in Shwachman⁃Diamond Syndrome

作　　者：李梦萍 王建设[1] LI Mengping;WANG Jianshe(The Center for Pediatric Liver Disease,Children's Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院肝病中心,上海201102

出　　处：《罕见病研究》2022年第3期347-351,共5页Journal of Rare Diseases

基　　金：国家重点研发计划(2021YFC2700800)。

摘　　要：Shwachman⁃Diamond综合征(SDS)是一种可累及胰腺、骨髓等全身多个脏器的常染色体隐性遗传病,肝脏受累也较常见。肝脏受累也可单独出现,主要表现为转氨酶升高、肝肿大。肝脏表现在婴幼儿期较明显,多数随年龄增长逐渐好转,但也有少数患儿并发肝硬化、肝衰竭,预后不良。本文主要总结SDS肝脏病变的流行病学、发病机制、临床特点及诊疗等方面的研究进展。Shwachman⁃Diamond syndrome is a multisystem autosomal recessive disorder characterized by pancreatic and bone marrow abnormalities with frequent liver involvement.Patients with SDS display aminotransaminase elevation and hepatomegaly in their early childhood.For most of the patients,the syptoms tend to improve as they grow.However,a number of the children with progress into cirrhosis even liver failure,and the prognosis is poor.This paper summarizes advances in the epidemiology,pathogenesis,clinical manifestations,and diagnosis and treatment of hepatopathy in Shwachman⁃Diamond syndrome.

关 键 词：Shwachman⁃Diamond综合征 肝脏病变 临床表现 

分 类 号：R596.1[医药卫生—内科学] R394[医药卫生—临床医学]