施瓦赫曼-戴蒙德综合征患者及SBDS基因突变患者胰腺的磁共振成像结果

Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.

作者信息

Toiviainen-Salo Sanna, Raade Merja, Durie Peter R, Ip Wan, Marttinen Eino, Savilahti Erkki, Mäkitie Outi

机构信息

Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

出版信息

J Pediatr. 2008 Mar;152(3):434-6. doi: 10.1016/j.jpeds.2007.12.013.

DOI:10.1016/j.jpeds.2007.12.013

PMID:18280855

Abstract

Pancreatic MRI was evaluated in 14 patients with a clinical diagnosis of Shwachman-Diamond syndrome, and the findings were correlated with Shwachman-Bodian-Diamond gene (SBDS) genotype. The findings suggest that patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern.

摘要

对14例临床诊断为施瓦赫曼-戴蒙德综合征的患者进行了胰腺磁共振成像（MRI）检查，并将检查结果与施瓦赫曼-博迪安-戴蒙德基因（SBDS）基因型相关联。结果表明，SBDS基因突变的患者具有胰腺脂肪替代的特征性磁共振成像表现，而没有这种表现的患者不太可能存在SBDS基因突变。