Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Cardiology
- Breast Neoplasms
- Tuberculosis
- Respiratory Medicine
- Pediatrics
- Ophthalmology
- Nuclear Medicine
- Hepatitis
Abstract
Citation: Ann Clin Case Rep. 2016;1(1):1086.DOI: 10.25107/2474-1655.1086
Hereditary Pancreatitis Associated with a Cationic Trypsinogen Mutation
Briongos-Figuero LS, Herrán-Monge R and Pérez-Castrillón JL
Internal Medicine Department.Rio Hortega University Hospital, Spain
Intensive Care Unit.Rio Hortega University Hospital, Spain
*Correspondance to: Laisa Socorro Briongos-Figuero
PDF Full Text Case Report | Open Access
Abstract:
Introduction: Hereditary pancreatitis is a very rare form of early pancreatitis with autosomal dominant pattern of inheritance. Follow-up is very important due to a markedly increased risk of pancreatic cancer.Case
Presentation: We report a case of a 22-year-old man with several episodes of acute recurrent pancreatitis, initially labeled as alcoholic related versus idiopathic but finally diagnosed of hereditary pancreatitis due a mutation in cationic trypsinogen gene.
Conclusion: Genetic testing should be considered in patients with unexplained recurrent pancreatitis at early age and family history of pancreatitis due to a markedly increased risk of pancreatic cancer. This rare case emphasizes upon considering this entity in the differential diagnosis of recurrent pancreatitis especially in young adult, genetic diagnosis and counselling during follow-up. Hereditary pancreatitis is a very rare form of early pancreatitis with autosomal dominant pattern of inheritance. Follow up is very important due to a markedly increased risk of pancreatic cancer. We report a case of a young man with episodes of acute recurrent pancreatitis, initially labeled as alcoholic related versus idiopathic but finally diagnosed of hereditary pancreatitis due a mutation in cationic trypsinogen gene.
Keywords:
Hereditary pancreatitis; Cationic trypsinogen; Genetic susceptibility; Recurrent acute pancreatitis
Cite the Article:
Briongos-Figuero LS, Herr�n-Monge R, P�rez-Castrill�n JL. Hereditary Pancreatitis Associated with a Cationic Trypsinogen Mutation. Ann Clin Case Rep. 2016; 1: 1086.