Initiating Pancreatic Enzyme Replacement Therapy (PERT) — Congenital Pancreatic Insufficiency — Clinical Pathway: All Settings

Clinical Pathway for Pancreatic Enzyme Replacement Therapy (PERT) in Children with or at Risk for Exocrine Pancreatic Insufficiency (EPI)

Congenital Pancreatic Insufficiency

Syndrome/Disease Process Common Clinical Presentations Comments Initial Laboratory Testing
Shwachman-Diamond Syndrome Cytopenias Etiology of EPI is a result of destruction of pancreatic acini with fatty replacement; ducts and islet cells remain intact
  • CBC with diff: ANC abnormal 3 times
  • Knee X-ray
  • Gene testing: SBDS gene on chromosome 7q11
  • Fecal elastase
  • Fat soluble vitamin levels
Short stature and poor weight gain Short stature and poor weight gain continue throughout life
Skeletal abnormalities due to mutation in SBDS gene on chromosome 7q11 Recurrent pyogenic infections may lead
to sepsis and mortality; increased risk of myelodysplastic syndrome and acute
myeloid leukemia
Johanson-Blizzard Syndrome
  • Nasal cartilage hypoplasia
  • Failure to thrive
  • Microcephaly
  • Hearing loss
  • Hypothyroidism
 Characteristic “bird-beak” appearance of nose
  • Thyroid function tests
  • Fecal elastase
  • Fat soluble vitamin levels
  • Hearing test
Pearson Syndrome Sideroblastic anemia
  • CBC with diff
  • Iron studies
  • Fecal elastase
  • Fat soluble vitamin levels
Jeune Syndrome
  • Asphyxiating thoracic dystrophy
  • Cystic lesions in kidney and pancreas
  • CXR
  • US kidney and pancreas
  • Fecal elastase
  • Fat soluble vitamin levels
Pancreatic Aplasia Rare; presents at birth
  • Fecal elastase
  • Fat soluble vitamin levels
  • US pancreas

Note

Specific pancreatic enzymes deficiencies have been reported in conjunction with
congenital exocrine pancreatic insufficiency (EPI), but its occurrence is rare.