Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ Failure to thrive Diarrhea Fatty stools Absence of respiratory symptoms +++ Clinical Findings ++ Associations of exocrine pancreatic insufficiency include Aplastic alae Aplasia cutis Deafness (Johanson-Blizzard syndrome) Sideroblastic anemia Developmental delay Seizures Liver dysfunction (Pearson bone marrow pancreas syndrome) Duodenal atresia or stenosis Malnutrition Pancreatic hypoplasia or agenesis +++ Diagnosis ++ Laboratory findings include a normal sweat chloride; low fecal pancreatic elastase 1; and low to absent pancreatic lipase, amylase, and trypsin levels on duodenal intubation CT examination of the pancreas demonstrates the widespread fatty replacement Genotyping of the SBDS gene is available Serum immunoreactive trypsinogen levels are extremely low +++ Treatment ++ Pancreatic enzyme and fat-soluble vitamin replacement are required therapy in most patients Hematopoietic stem cell transplantation should be considered in patients with myelodysplasia syndrome Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth