title: The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.
abstract: BACKGROUND
  Available data from adult patients do not reflect natural course of hereditary pancreatitis (HP) in children. To date, no study has assessed the clinical course of HP in children.
  
  
  OBJECTIVE
  To investigate the clinical course of HP in children and compare it to non-HP group with chronic pancreatitis (CP).
  
  
  METHODS
  A group of 265 children with CP, hospitalized from 1988 to 2014, were enrolled in the study. Medical records of those patients were reviewed for data on presentation, diagnostic findings and treatment. All children were screened for mutations in major pancreatitis-associated genes, i.e. PRSS1, SPINK1, and CFTR.
  
  
  RESULTS
  HP was diagnosed in 41 children (15.5%). Family history was positive in 88% of children with HP. Mutations of PRSS1 gene were found in 80% (33/41) of HP patients. We detected p.R122H, p.R122C, p.N29I, and p.E79K mutation in 34% (14/41), 27% (11/41), 12% (5/41), and 7% (3/41) of HP patients, respectively. Patients with paternal inheritance had first symptoms earlier than those with maternal inheritance (5.9 vs. 9.1 years; P < 0.05). Children with HP showed more severe changes in ERCP then those from non-HP group (2.05 Cambridge grade, vs. 1.6°; P < 0.05). ESWL was performed more frequently in HP group (12.2% vs. 3.1%; P < 0.05). There was no difference in age of disease onset (7.98 vs. 8.9 years; NS), pancreatic duct stenting (46.3% vs. 33%; NS), or number of surgical interventions (12.2% vs. 14.3%; NS) between both groups.
  
  
  CONCLUSIONS
  Children with HP reveal significantly more severe clinical presentation of the disease than non-HP patients, despite the same age of onset.
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address: agoracz@wp.pl.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Oracz
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Elwira
authors.initials: E
authors.lastname: Kolodziejczyk
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland; Medgen, ul. Orzycka 27, 02-695 Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczynska-Tomaszewska
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Wejnarska
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Dadalski
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Alicja Monika
authors.initials: AM
authors.lastname: Grabarczyk
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Kierkus
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Woynarowski
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.affiliation: Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
authors.forename: Jozef
authors.initials: J
authors.lastname: Ryzko
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, Poland.
authors.forename: Agnieszka Magdalena
authors.initials: AM
authors.lastname: Rygiel
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D015992:Body Mass Index; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D018450:Disease Progression; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010183:Pancreatic Ducts / Q000473:pathology; D010195:Pancreatitis / Q000235:genetics* / Q000473:pathology*; D050500:Pancreatitis, Chronic / Q000235:genetics / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D012189:Retrospective Studies; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin
keywords: Children; Chronic pancreatitis; Gene mutations; Hereditary pancreatitis