Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
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.
Toiviainen-Salo
Sanna
S
Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.
Raade
Merja
M
Durie
Peter R
PR
Ip
Wan
W
Marttinen
Eino
E
Savilahti
Erkki
E
Mäkitie
Outi
O
D000293:Adolescent; D016022:Case-Control Studies; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010186:Pancreatic Function Tests; D011336:Probability; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D012016:Reference Values; D012720:Severity of Illness Index; D013577:Syndrome
D011506:Proteins; C470521:SBDS protein, human