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For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Showing posts with label growth. Show all posts
Showing posts with label growth. Show all posts
Thursday, August 7, 2008
Tuesday, July 29, 2008
Camp Notes: Q&A Hem notes
There was a Q&A with Dr. S and Dr. H after their talks. These are my notes from that Q&A session.
I have written down “del 7q is serous” here was mention of del 20q and how it is not as serious as the other clonal abnormalities.
A question came up of using dedicated donors when our SDS kids need transfusions of red cells and platelets. Here is what I wrote down from their answers:
Dedicated donors: DO NOT USE FAMILY DONORS! Relatives as donors increase the risk of graft rejection post transplant.
Donor drive donors have been shown to have a higher risk of infection—volunteer donors are best. When people are *forced* to donate blood products, say because of a co-worker doing a drive, they feel as if they have to give –and will go with infections, etc…..
Random pooled platelets? Or Pherised (sp) platelets to minimize donor exposure? This is becoming less of an issue with newer techniques. Data doesn’t necessarily support this.
Female bone marrow donors—pregnancy (number of) makes a difference—more antigens— if all things are the same in two donors except one is male and one is female w/ pregnancies, they would choose the male.
HLA Loci are located on Chromosome 6. Parents are unlikely to be a match (less than 1-2% chance that parents would be an HLA match for their children)
Growth hormone studies. There are no studies showing increased risk. Talked about the possibility that high doses might have increased risk, but that there really are no studies. There is no data on GH in SDS. Dr. Durie weighed in and said that SDS is a chondrodysplasia meaning that growth plates do not behave themselves & may result in premature fusion of the growth plates (if GH used) no real data, of course & he said that he was very conservative…if the SDS patient was TRULY GH deficient, then he may try it.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
I have written down “del 7q is serous” here was mention of del 20q and how it is not as serious as the other clonal abnormalities.
A question came up of using dedicated donors when our SDS kids need transfusions of red cells and platelets. Here is what I wrote down from their answers:
Dedicated donors: DO NOT USE FAMILY DONORS! Relatives as donors increase the risk of graft rejection post transplant.
Donor drive donors have been shown to have a higher risk of infection—volunteer donors are best. When people are *forced* to donate blood products, say because of a co-worker doing a drive, they feel as if they have to give –and will go with infections, etc…..
Random pooled platelets? Or Pherised (sp) platelets to minimize donor exposure? This is becoming less of an issue with newer techniques. Data doesn’t necessarily support this.
Female bone marrow donors—pregnancy (number of) makes a difference—more antigens— if all things are the same in two donors except one is male and one is female w/ pregnancies, they would choose the male.
HLA Loci are located on Chromosome 6. Parents are unlikely to be a match (less than 1-2% chance that parents would be an HLA match for their children)
Growth hormone studies. There are no studies showing increased risk. Talked about the possibility that high doses might have increased risk, but that there really are no studies. There is no data on GH in SDS. Dr. Durie weighed in and said that SDS is a chondrodysplasia meaning that growth plates do not behave themselves & may result in premature fusion of the growth plates (if GH used) no real data, of course & he said that he was very conservative…if the SDS patient was TRULY GH deficient, then he may try it.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Camp Sunshine Notes: Gastro, nutrition and SDS--notes from day one
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
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
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