title: Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression.
abstract: OBJECTIVE
  Shwachman syndrome is an inherited condition with multisystemic abnormalities, including exocrine pancreatic dysfunction. The aim of this study was to evaluate the occurrence and progression of features in a large cohort of patients.
  
  
  METHODS
  Clinical records of 25 patients with Shwachman syndrome were reviewed.
  
  
  RESULTS
  Mean birth weight (2.92 +/- 0.51 kg) was at the 25th percentile. However, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Severe fat maldigestion due to pancreatic insufficiency was present in early life (fecal fat, 26% +/- 17% of fat intake; age, < 2 years). Serial assessment of exocrine pancreatic function showed persistent deficits of enzyme secretion, but 45% of patients showed moderate age-related improvements leading to pancreatic sufficiency. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Patients with hypoplasia of all three bone marrow cellular lines (n = 11) had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogenous leukemia. Other findings included hepatomegaly and/or abnormal liver function test results and skeletal abnormalities.
  
  
  CONCLUSIONS
  A wide and varied spectrum of phenotypic abnormalities among patients with Shwachman syndrome is described. Pancreatic acinar dysfunction is an invariable abnormality. Patients with severe bone marrow involvement may have a guarded prognosis.
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
authors.forename: D R
authors.initials: DR
authors.lastname: Mack
authors.forename: G G
authors.initials: GG
authors.lastname: Forstner
authors.forename: M
authors.initials: M
authors.lastname: Wilschanski
authors.forename: M H
authors.initials: MH
authors.lastname: Freedman
authors.forename: P R
authors.initials: PR
authors.lastname: Durie
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010182:Pancreatic Diseases / Q000503:physiopathology*; D010641:Phenotype; D011379:Prognosis; D013577:Syndrome