Shwachman-Diamond综合征研究进展  

Progress of Shwachman-Diamond syndrome

作　　者：赵彦婷[1] 李白[1] 王叨[1] 刘玉峰[1] Zhao Yanting;Li Bai;Wang Dao;Liu Yufeng(Department of Pediatrics,Children′s Hospital Affiliated to the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第一附属医院儿童医院儿科,450000

出　　处：《中华实用儿科临床杂志》2018年第19期1518-1520,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：Shwachman-Diamond综合征（SDS）是一种罕见的常染色体隐性遗传病，累及多系统脏器的疾病，主要表现为胰腺外分泌功能不全，骨髓衰竭和骨骼发育异常，还可累及全身其他脏器功能，并有恶性转化可能。SDS相关基因定位于7q11，常见的突变类型为183_184 TA〉CT和258＋2 T〉C。现综合检索到的国内外相关文献，分析其临床特点、基因型及诊治方案等，以提高临床医师对该病的认识。Shwachman-Diamond syndrome （SDS） is a rare autosomal recessive disorder, SDS is characte-rized by exocrine pancreatic dysfunction, bone marrow failure, skeletal abnormalities and various other organ dysfunctions, and predisposition to MDS and acute myelogenous ceukemia.The Shwachman-Bodian-Diamond syndrome （SBDS） gene located on chromosome 7q11, the common mutation type is 183_184 TA〉CT and 258＋ 2 T〉C.The purpose of this document is to comprehensive analysis the relevant literatures, analyze its clinical characteristics, genotype, diagnosis and treatment suggestions to improve the clinician knowledge of the disease.

关 键 词：Shwachman-Diamond综合征 胰腺外分泌功能不全 骨髓功能衰竭 骨骼发育异常 基因 

分 类 号：R725.9[医药卫生—儿科]