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

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

doi:10.1016/j.jpeds.2007.12.013

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

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

Authors

Sanna Toiviainen-Salo¹, Merja Raade, Peter R Durie, Wan Ip, Eino Marttinen, Erkki Savilahti, Outi Mäkitie

Affiliation

¹ Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

PMID: 18280855
DOI: 10.1016/j.jpeds.2007.12.013

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Case-Control Studies
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Exocrine Pancreatic Insufficiency / diagnosis
Exocrine Pancreatic Insufficiency / genetics*
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging / methods*
Male
Mutation*
Osteochondrodysplasias / diagnosis
Osteochondrodysplasias / genetics*
Pancreatic Function Tests
Probability
Proteins / genetics*
Proteins / metabolism
Reference Values
Severity of Illness Index
Syndrome

Substances

Proteins
SBDS protein, human