title: Genetic Mutations in Pediatric Pancreatitis.
abstract: The aim of our study was to describe the prevalence, characteristics, and outcomes of children with acute recurrent (ARP) or chronic (CP) pancreatitis with or without mutations in PRSS1, CFTR or SPINK1.
  
  
  
  Retrospective chart review of children with ARP or CP with and without testing for PRSS1, CFTR, and SPINK1. Demographics, clinical features, management, and outcome were collected. Analysis of variance was used to compare continuous variables and χ or Fisher exact test for categorical variables.
  
  
  
  Ninety-one subjects with ARP (n = 77) or CP (n = 14) were identified and included in this study. Of these, 37 (41%) were male, 44 were white, and 30 were Hispanic. Thirty-three (36%) had at least 1 mutation identified (Pan-Mut): PRSS1 (7), CFTR (21), SPINK1 (3), SPINK/CFTR (2). Thirty-six were tested but had no mutation, and 22 were not tested. The Pan-Mut subjects were more likely to have a family history of pancreatitis but there were no differences in the clinical features, imaging or outcome.
  
  
  
  Mutations in CFTR, SPINK1 or PRSS1 are present in one third of pediatric ARP and CP with no other cause. No clinical features or outcomes differentiated between the Pan-Mut group and the no-mutation group. The Pan-Mut subjects were more likely to have a family history of pancreatitis. Pediatric ARP and CP without identified cause should undergo genetic testing.
authors.affiliation: From the *Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado; and †University of Colorado School of Public Health, Aurora, CO.
authors.forename: Padade M
authors.initials: PM
authors.lastname: Vue
authors.forename: Kim
authors.initials: K
authors.lastname: McFann
authors.forename: Michael R
authors.initials: MR
authors.lastname: Narkewicz
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000208:ethnology / Q000235:genetics* / Q000601:surgery; D050500:Pancreatitis, Chronic / Q000208:ethnology / Q000235:genetics* / Q000601:surgery; D015995:Prevalence; D012008:Recurrence; D012189:Retrospective Studies; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014481:United States / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin