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Hereditary pancreatitis in a family of Aboriginal descent
J M McGaughran1, R Kimble, J Upton
1Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia. Julie_McGaughran@health.qld.gov.au
Insights
Hereditary pancreatitis, a genetic condition, was diagnosed in an Aboriginal family through genetic testing. This highlights the importance of considering genetic causes for recurrent pancreatitis, regardless of ethnicity.
Area of Science:
- Genetics
- Gastroenterology
- Hereditary Diseases
Background:
- Hereditary pancreatitis is an autosomal dominant disorder causing recurrent acute pancreatitis, often beginning in childhood.
- It necessitates considering genetic factors in unexplained pancreatitis cases.
Observation:
- An 11-year-old Aboriginal girl presented with acute pancreatitis, leading to the investigation of her family history.
- Recurrent pancreatitis episodes were noted in her father and paternal grandmother.
Findings:
- Genetic testing identified a pathogenic mutation in the cationic trypsinogen gene in the proband, her father, and paternal grandmother.
- This represents the first documented Aboriginal family with mutation-proven hereditary pancreatitis.
Implications:
- Hereditary pancreatitis should be a key differential diagnosis for recurrent acute pancreatitis without clear causes.
- Family history is crucial for diagnosis, and ethnic stereotypes should be avoided in patient assessment.
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.
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