Progress of Shwachman-Diamond syndrome / 中华实用儿科临床杂志

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.