Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome
10.12376/j.issn.2097-0501.2022.03.019
- VernacularTitle:Shwachman-Diamond综合征肝脏病变研究进展
- Author:
Mengping LI
1
;
Jianshe WANG
1
Author Information
1. The Center for Pediatric Liver Disease, Children's Hospital of Fudan University, Shanghai 201102, China.
- Publication Type:Review
- Keywords:
Shwachman-Diamond syndrome;
hepatopathy;
clinical manifestations
- From:
JOURNAL OF RARE DISEASES
2022;1(3):347-351
- CountryChina
- Language:Chinese
-
Abstract:
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.
