Shwachman-Diamond 综合征临床特征与管理

Clinical features and management of Shwachman-Diamond syndrome

Shwachman-Diamond综合征是一种可累及全身多脏器的常染色体隐性遗传病,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,常有肝脏累及。为提高临床医生对该病的认识,本文总结了Shwachman-Diamond综合征的发病机制、临床特征、诊断及长期管理要点。Shwachman-Diamond综合征患儿早期诊断、早期治疗和规律随访是改善预后的关键。

Shwachman-Diamond syndrome is an autosomal recessive disorder that may involve multiple visceral organs of the body,with the main manifestations of exocrine pancreatic insufficiency,bone marrow failure,and skeletal abnormalities with frequent liver involvement.In order to improve the awareness of this disease among clinicians,this article summarizes the pathogenesis,clinical features,diagnosis,and long-term management of Shwachman-Diamond syndrome.Early diagnosis,early treatment,and regular follow-up are the key to improving the prognosis of children with Shwachman-Diamond syndrome.