Steatorrhea and Pancreatic Insufficiency in Shwachman Syndrome
نویسندگان
چکیده
منابع مشابه
Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.
A patient with pancreatic insufficiency and cyclical neutropenia is described who also has evidence of hepatic dysfunction. He and 3 other patients whose findings are given emphasize the wide range of abnormalities seen in this syndrome.
متن کاملBacterial lipase and high-fat diets in canine exocrine pancreatic insufficiency: a new therapy of steatorrhea?
BACKGROUND & AIMS Nutrients and properties of lipases affect survival of lipolytic activity during aboral gastrointestinal transit. Whether different doses and formulations of bacterial lipase and diets affect steatorrhea was tested in pancreatic-insufficient dogs. METHODS A dose of 0-600,000 IU of powdered and 135,000 and 300,000 IU of liquid bacterial lipase was given with a standard meal t...
متن کاملSyndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman‐Diamond syndrome or new condition?
This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever-expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman-Diamond syndrome (SDS) or a new condition which resembles SDS.
متن کاملPancreatic Insufficiency in Children
38 INTRODUCTION I n s u fficiency of the exocrine pancreas should be considered in the work-up of any pediatric patient who presents with features of malabsorption such as failure to thrive, chronic diarrhea, hypoalbuminemia, anemia, or symptoms of trace vitamin and mineral deficiencies. Testing for pancreatic insufficiency can be cumbersome due to the time commitment involved in many of the no...
متن کاملDefective ribosome assembly in Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential S...
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ژورنال
عنوان ژورنال: Gastroenterology
سال: 1982
ISSN: 0016-5085
DOI: 10.1016/s0016-5085(82)80279-5