Hereditary pancreatitis in a family of Aboriginal descent

McGaughran, J. M., Kimble, R., Upton, J. and George, P. (2004) Hereditary pancreatitis in a family of Aboriginal descent. Journal of Paediatrics and Child Health, 40 8: 487-489. doi:10.1111/j.1440-1754.2004.00437.x


Author McGaughran, J. M.
Kimble, R.
Upton, J.
George, P.
Title Hereditary pancreatitis in a family of Aboriginal descent
Journal name Journal of Paediatrics and Child Health   Check publisher's open access policy
ISSN 1034-4810
1440-1754
Publication date 2004
Sub-type Article (original research)
DOI 10.1111/j.1440-1754.2004.00437.x
Volume 40
Issue 8
Start page 487
End page 489
Total pages 3
Editor F. Oberklaid
Place of publication Carlton South, Australia
Publisher Blackwell Publishing Asia
Collection year 2004
Language eng
Subject C1
321011 Medical Genetics
730206 Aboriginal and Torres Strait Islander health
Abstract Hereditary pancreatitis is an autosomal dominant condition characterized by recurrent episodes of acute pancreatitis, usually starting in childhood. We present a family who was ascertained when an 11-year-old girl presented with an episode of acute pancreatitis. Her father and other family members had also had recurrent bouts of acute pancreatitis. Genetic testing revealed a pathogenic mutation in the cationic trypsinogen gene in the proband, her father and her paternal grandmother. As far as we are aware, this is the first Aboriginal kindred with mutation-proven hereditary pancreatitis. Hereditary pancreatitis is an important differential diagnosis to consider in a patient with recurrent episodes of acute pancreatitis with no obvious precipitating cause. This family is of Aboriginal descent and the implications of the family's background are also discussed when considering the aetiology of the condition. We emphasize the need to ascertain a full family history from patients with a history of repeated episodes of acute pancreatitis and also emphasize the need to avoid ethnic stereotypes when assessing patients.
Keyword Pediatrics
Aboriginal
Hereditary Pancreatitis
Cationic Trypsinogen Gene
Mutations
Inhibitor
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2005 Higher Education Research Data Collection
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 4 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 5 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 15 Aug 2007, 04:23:03 EST