Hereditary pancreatitis. Pediatr Surg Int 2010 Dec;26(12):1193-9
Date
08/11/2010Pubmed ID
20697897DOI
10.1007/s00383-010-2684-4Scopus ID
2-s2.0-79952544646 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
Hereditary chronic pancreatitis (HCP) is a rare disease in which chronic pancreatitis develops in childhood. HCP has autosomal dominant inheritance with approximately 80% penetrance. Diagnostic criteria are not universally agreed upon but the EUROPAC trial defined it as two first-degree relatives or at least 3 second-degree relatives in two or more generations, with chronic pancreatitis for which there is no other etiology. The gene for HCP was originally identified on chromosome 7 and subsequently many other genes have been reported to be associated with HCP. To date, no single genetic alteration has been found that is necessary for the development of HCP. In a recent study, 81% of patients with HCP were found to have a mutation of the PRSS1 gene. Patients with HCP are at risk for developing exocrine and endocrine insufficiency and there is a 50-fold increased risk of pancreatic cancer in HCP patients as compared with the general population.
Author List
Lal A, Lal DRAuthor
Dave Lal MD, MPH Chief, Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Age of OnsetChild
Comorbidity
Female
Genetic Counseling
Humans
Male
Pancreatitis, Chronic
Prognosis
Trypsin
