The natural history of hereditary pancreatitis: A national series

Gut

Volumn 58, Issue 1, 2009, Pages 97-103

  Rebours, V ^a   Boutron Ruault, M C ^b   Schnee, M ^c   Ferec C ^d   Le Marechal C ^d   Hentic, O ^a   Maire, F ^a   Hammel, P ^a   Ruszniewski, P ^a   Levy P ^a  

^a BEAUJON HOSPITAL   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c Centre Hospitalier Departemental   (France)

^d UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANALGESIC AGENT; CATION; PRSS1 PROTEIN, HUMAN; TRYPSINOGEN; UNCLASSIFIED DRUG;

ACUTE PANCREATITIS; ADENOCARCINOMA; ADOLESCENT; ADULT; AGED; ALCOHOLISM; ARTICLE; CANCER MORTALITY; CHILD; CHOLESTASIS; CHRONIC PANCREATITIS; CLINICAL FEATURE; COHORT ANALYSIS; CORRELATION ANALYSIS; DIABETES MELLITUS; EXOCRINE SECRETION; FAMILY HISTORY; FEMALE; FRANCE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GROUPS BY AGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL SPECIALIST; MIDDLE AGED; MORPHOLOGICAL TRAIT; MORPHOLOGY; PAIN; PANCREAS ADENOCARCINOMA; PANCREAS CALCIFICATION; PANCREAS EXOCRINE INSUFFICIENCY; PANCREAS PSEUDOCYST; PANCREATITIS; PEDIATRICIAN; PENETRANCE; PREVALENCE; PRIORITY JOURNAL; SMOKING; SYMPTOM; TRYPSINOGEN GENE; AGE DISTRIBUTION; CLINICAL TRIAL; EPIDEMIOLOGY; GENETICS; GENOTYPE; INFANT; MULTICENTER STUDY; MUTATION; ONSET AGE; PANCREAS TUMOR; PHENOTYPE; PRESCHOOL CHILD;

ADENOCARCINOMA; ADOLESCENT; ADULT; AGE DISTRIBUTION; AGE OF ONSET; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; EPIDEMIOLOGIC METHODS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; FRANCE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PANCREATIC NEOPLASMS; PANCREATITIS, CHRONIC; PENETRANCE; PHENOTYPE; TRYPSINOGEN; YOUNG ADULT;

EID: 58249089866     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gut.2008.149179     Document Type: Article

References (27)

1. Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952; 21:54-63.
2. Le Bodic L, Schnee M, Georgelin T, et al. An exceptional genealogy for hereditary chronic pancreatitis. Dig Dis Sci 1996; 41:1504-10.
3. Le Bodic L, Bignon JD, Raguenes O, et al. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet 1996; 5:549-54.
4. Pandya A, Blanton SH, Landa B, et al. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics 1996; 38:227-30.
5. Whitcomb DC, Preston RA, Aston CE, et al. A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology 1996; 110:1975-80.
6. Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996; 14:141-5.
7. Férac C, Raguenes O, Salomon R, et al. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet 1999; 36:228-32.
8. Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997; 113:1063-8.
9. Konzen KM, Perrault J, Moir C, et al. Long-term follow-up of young patients with chronic hereditary or idiopathic pancreatitis. Mayo Clin Proc 1993; 68:449-53.
10. Paolini O, Hastier P, Buckley M, et al. The natural history of hereditary chronic pancreatitis: a study of 12 cases compared to chronic alcoholic pancreatitis. Pancreas 1998; 17:266-71.
11. Amann ST, Gates LK, Aston CE, et al. Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins. Gut 2001; 48:542-7.
12. Le Marechal C, Bretagne JF, Raguenes O, et al. Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1). Mol Genet Metab 2001; 74:342-4.
13. Chen JM, Mercier B, Ferec C. Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis. Gut 1999; 45:916.
14. Howes N, Lerch MM, Greenhalf W, et al. Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004; 2:252-61.
15. Sibert JR. A British family with herediatary pancreatitis. Gut 1975; 16:81-8.
16. Sibert JR. Hereditary pancreatitis in England and Wales. J Med Genet 1978; 15:189-201.
17. Keim V, Bauer N, Teich N, et al. Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene. Am J Med 2001; 111:622-6.
18. Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 1997; 89:442-6.
19. Lowenfels AB, Maisonneuve P, Whitcomb DC, et al. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. Jama 2001; 286:169-70.
20. Rebours V, Boutron-Ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol 2008; 103:111-9.
21. Levy P, Bemades P. [Influence of bouts of acute pancreatitis on the course of chronic alcoholic pancreatitis in man]. Gastroenterol Clin Biol 1989; 13:1050-4. (In French.)
22. Levy P, Milan C, Pignon JP, et al. Mortality factors associated with chronic pancreatitis. Unidimensional and multidimensional analysis of a medical-surgical series of 240 patients. Gastroenterology 1989; 96:1165-72.
23. Le Marechal C, Chen JM, Quere I, et al. Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography. BMC Genet 2001; 2:19.
24. Le Marechal C, Chen JM, Le Gall C, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat 2004; 23:205.
25. Witt H, Luck W, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25:213-6.
26. Ammann RW, Akovbiantz A, Largiader F, et al. Course and outcome of chronic pancreatitis. Longitudinal study of a mixed medical-surgical series of 245 patients. Gastroenterology 1984; 86(5 Pt 1):820-8.
27. Layer P, Yamamoto H, Kalthoff L, et al. The different courses of early- and late-onset idiopathic and alcoholic chronic pancreatitis. Gastroenterology 1994; 107:1481-7.