李梦萍, 王建设. Shwachman-Diamond综合征肝脏病变研究进展[J]. 罕见病研究, 2022, 1(3): 347-351. DOI: 10.12376/j.issn.2097-0501.2022.03.019
引用本文: 李梦萍, 王建设. Shwachman-Diamond综合征肝脏病变研究进展[J]. 罕见病研究, 2022, 1(3): 347-351. DOI: 10.12376/j.issn.2097-0501.2022.03.019
LI Mengping, WANG Jianshe. Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome[J]. Journal of Rare Diseases, 2022, 1(3): 347-351. DOI: 10.12376/j.issn.2097-0501.2022.03.019
Citation: LI Mengping, WANG Jianshe. Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome[J]. Journal of Rare Diseases, 2022, 1(3): 347-351. DOI: 10.12376/j.issn.2097-0501.2022.03.019

Shwachman-Diamond综合征肝脏病变研究进展

Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome

  • 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。

     

    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.

     

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