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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


  • 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


  • 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

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