This talk was about the exocrine pancreas, growth and nutrition
In SDS, there are too few Acinar cell- there is fatty replacement.
He gave the definitions of PI and PS
PI (pancreatic insufficient) – needs enzymes
PS(pancreatic sufficient) – mild to moderate pancreatic disease still capable of digesting food.
At diagnosis, 95% of SDS patients are PI ~50% become pancreatic sufficient over the first 4-5 years although starch digestion is still affected.
Monitoring the pancreas. Stool fat losses-72 hr test or the fecal elastase 1 testing, though there are no normal values established in SDS. Testing of blood enzymes (trypsinogen and amylase)
Pancreatic stimulation test has false positive results in 25% & is the most inaccurate--- in the US they don’t collect properly……… us the wrong hormone in the US in particular.
Pancreas testing should be done annually for the first 4-5 years, then if pancreatic function seems to be improved. If not PS by 4-5 years, then it is not likely the SDS patient will become PS
SDS patients may be functioning at 2-3 % of pancreatic function & not need enzymes
Most SDS patients have low serum trypsinogen and those with high serum trypsinogen or normal serum trypsinogen are PS.Growth and nutrition
Malnutrition and FTT are not a problem once feeding properly (enzymes, too) Short stature is the problem. Pushing feeding doesn’t improve the short stature. 80% are lower than the 50th percentile and many are in the 50th percentile. There was a 6’3” patient recently diagnosed….diagnosis came late because of his exceptional growth. So….SDS patients CAN BE TALL. INTERESTING…….. I think this was an interesting point because of comments made about Sean being in the 50th percentile in the past…. VERY validating for those of us with kids who are growing well. I also thought it was interesting that they said growth in SDS children is normal once the enzymes are started/ malabsorption is corrected…. SDS kids tend to grow normally……
Summary—prior to diagnosis FTT and malnutrition, but after diagnosis, these are not a problem SDS patients grow at proper rate once nutritional status improves.
LIVER
Enlarged liver can be the first clue to a SDS diagnosis. There can be fat in the liver cells. This is usually seen in people with obesity problems—(fat in liver). This seems to go away along with the elevated biochemical tests (liver enzymes). No intervention is usually necessary—Dr. Durie said to keep an eye on it if it is mildly elevated/mildly abnormal.
Fatty changes in the pancreas are not unique to SDS.
Trypsinogen is a precursor to trypsin. Amylase and lipase are not well developed at birth –even in normal kids.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
