Saturday, February 23, 2008

Article: MRI Findings of the Pancreas in patients with SDS and mutations in the SBDS gene

Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.
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.

This article contains charts on how each of the 14 patients pancreatic function was assessed. It lists all 14 patients and how each one’s pancreatic function was assessed and then lists the criteria for their SDS diagnosis. It also lists their neutrophil count (range) and height Z-score. In another chart, it lists how long they were on enzymes--- i.e. lists the age at which the person became pancreatic sufficient. One child was 4 years old when she came off of enzymes (i.e. she was on enzymes until age 4) and another one was 5 years old. Two came off of enzymes at 11 years and one at 22 years, one at 29 years, 3 never took enzymes and the rest are on on-going enzyme replacement.

There were 14 patients. 10 males and 4 females. 13 of them were diagnosed at a median age of 18 months….but one was referred to them at age 13 for suspected SDS. One of the patients was diagnosed with type I diabetes at age 15. With all of our diabetes talk recently, I thought that was an interesting note. The article says hat all patients with SBDS mutations showed fatty pancreas on MRI—the patients without the SBDS mutations and proven PI had NORMAL pancreatic MRIs.