Abstract
Hereditary pancreatitis is a rare form of chronic recurrent pancreatitis. A family, in which 11 members had chronic pancreatitis, five had diabetes, and two had pancreatic cancer, was studied, and hereditary pancreatitis was diagnosed in all patients by demonstrating the mutation in exon 3 of the cationic trypsinogen gene (R117H). The clinical implications of genotypic analysis in hereditary pancreatitis are discussed.
Full Text
The Full Text of this article is available as a PDF (57.6 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Gorry M. C., Gabbaizedeh D., Furey W., Gates L. K., Jr, Preston R. A., Aston C. E., Zhang Y., Ulrich C., Ehrlich G. D., Whitcomb D. C. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology. 1997 Oct;113(4):1063–1068. doi: 10.1053/gast.1997.v113.pm9322498. [DOI] [PubMed] [Google Scholar]
- Lerner A., Branski D., Lebenthal E. Pancreatic diseases in children. Pediatr Clin North Am. 1996 Feb;43(1):125–156. doi: 10.1016/s0031-3955(05)70400-4. [DOI] [PubMed] [Google Scholar]
- Perrault J. Hereditary pancreatitis. Gastroenterol Clin North Am. 1994 Dec;23(4):743–752. [PubMed] [Google Scholar]
- Soldan W., Henker J., Sprössig C. Sensitivity and specificity of quantitative determination of pancreatic elastase 1 in feces of children. J Pediatr Gastroenterol Nutr. 1997 Jan;24(1):53–55. doi: 10.1097/00005176-199701000-00013. [DOI] [PubMed] [Google Scholar]
- Sossenheimer M. J., Aston C. E., Preston R. A., Gates L. K., Jr, Ulrich C. D., Martin S. P., Zhang Y., Gorry M. C., Ehrlich G. D., Whitcomb D. C. Clinical characteristics of hereditary pancreatitis in a large family, based on high-risk haplotype. The Midwest Multicenter Pancreatic Study Group (MMPSG) Am J Gastroenterol. 1997 Jul;92(7):1113–1116. [PubMed] [Google Scholar]
- Teich N., Mössner J., Keim V. Mutations of the cationic trypsinogen in hereditary pancreatitis. Hum Mutat. 1998;12(1):39–43. doi: 10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P. [DOI] [PubMed] [Google Scholar]
- Whitcomb D. C., Gorry M. C., Preston R. A., Furey W., Sossenheimer M. J., Ulrich C. D., Martin S. P., Gates L. K., Jr, Amann S. T., Toskes P. P. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996 Oct;14(2):141–145. doi: 10.1038/ng1096-141. [DOI] [PubMed] [Google Scholar]
- Whitcomb D. C., Preston R. A., Aston C. E., Sossenheimer M. J., Barua P. S., Zhang Y., Wong-Chong A., White G. J., Wood P. G., Gates L. K., Jr A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology. 1996 Jun;110(6):1975–1980. doi: 10.1053/gast.1996.v110.pm8964426. [DOI] [PubMed] [Google Scholar]