Hereditary chronic pancreatitis
Open Access
- 4 January 2007
- journal article
- review article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 2 (1), 1
- https://doi.org/10.1186/1750-1172-2-1
Abstract
Hereditary chronic pancreatitis (HCP) is a very rare form of early onset chronic pancreatitis. With the exception of the young age at diagnosis and a slower progression, the clinical course, morphological features and laboratory findings of HCP do not differ from those of patients with alcoholic chronic pancreatitis. As well, diagnostic criteria and treatment of HCP resemble that of chronic pancreatitis of other causes. The clinical presentation is highly variable and includes chronic abdominal pain, impairment of endocrine and exocrine pancreatic function, nausea and vomiting, maldigestion, diabetes, pseudocysts, bile duct and duodenal obstruction, and rarely pancreatic cancer. Fortunately, most patients have a mild disease. Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. It has been shown that the PRSS1 mutations increase autocatalytic conversion of trypsinogen to active trypsin, and thus probably cause premature, intrapancreatic trypsinogen activation disturbing the intrapancreatic balance of proteases and their inhibitors. Other genes, such as the anionic trypsinogen (PRSS2), the serine protease inhibitor, Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) have been found to be associated with chronic pancreatitis (idiopathic and hereditary) as well. Genetic testing should only be performed in carefully selected patients by direct DNA sequencing and antenatal diagnosis should not be encouraged. Treatment focuses on enzyme and nutritional supplementation, pain management, pancreatic diabetes, and local organ complications, such as pseudocysts, bile duct or duodenal obstruction. The disease course and prognosis of patients with HCP is unpredictable. Pancreatic cancer risk is elevated. Therefore, HCP patients should strongly avoid environmental risk factors for pancreatic cancer.Keywords
This publication has 86 references indexed in Scilit:
- Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitisHuman Mutation, 2006
- A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitisNature Genetics, 2006
- Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitutionThe Esophagus, 2002
- Hereditary Pancreatitis Caused by a Novel PRSS1 Mutation (Arg-122 → Cys) That Alters Autoactivation and Autodegradation of Cationic TrypsinogenPublished by Elsevier BV ,2002
- A new polymorphism for the RI22H mutation in hereditary pancreatitisGut, 2001
- Gain-of-Function Mutations Associated with Hereditary Pancreatitis Enhance Autoactivation of Human Cationic TrypsinogenBiochemical and Biophysical Research Communications, 2000
- The hereditary pancreatitis gene maps to long arm of chromosome 7Human Molecular Genetics, 1996
- Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutationsThe Journal of Pediatrics, 1995
- Pancreatitis in young children with cystic fibrosisThe Journal of Pediatrics, 1992
- Surgical therapy and long-term follow-up of childhood hereditary pancreatitisJournal of Pediatric Surgery, 1992