Shwachman-Diamond syndrome: report from an international conference
R Rothbaum, J Perrault, A Vlachos, M Cipolli… - The Journal of …, 2002 - jpeds.com
267 with fatty replacement; yet, with time, the pancreatic enzyme release and the fat
absorption not only stabilize but may gradually normalize in a fair number of patients. 8 This
is why the diagnosis of SDS may be difficult in an older child, who may have normal fat
balance studies. However, improved exocrine pancreatic insufficiency does not necessarily
imply improved growth, because short stature is a frequent clinical feature of SDS caused by
skeletal abnormalities. Similarly, the elevated aminotransferase levels seen in early …
absorption not only stabilize but may gradually normalize in a fair number of patients. 8 This
is why the diagnosis of SDS may be difficult in an older child, who may have normal fat
balance studies. However, improved exocrine pancreatic insufficiency does not necessarily
imply improved growth, because short stature is a frequent clinical feature of SDS caused by
skeletal abnormalities. Similarly, the elevated aminotransferase levels seen in early …
