Progress of Shwachman-Diamond syndrome
10.3760/cma.j.issn.2095-428X.2018.19.017
- VernacularTitle:Shwachman-Diamond综合征研究进展
- Author:
Yanting ZHAO
1
;
Bai LI
;
Dao WANG
;
Yufeng LIU
Author Information
1. 450000,郑州大学第一附属医院儿童医院儿科
- Keywords:
Shwachman - Diamond syndrome;
Exocrine pancreatic dysfunction;
Bone marrow failure;
Skeletal abnormalities;
Gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(19):1518-1520
- CountryChina
- Language:Chinese
-
Abstract:
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 dysfunc-tions,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,geno-type,diagnosis and treatment suggestions to improve the clinician knowledge of the disease.
