Abstract
Nearly one hundred families affected with hereditary chronic pancreatitis (HCP) have been reported in the literature. However, the fact that the disease involved only a few members of each family limits the informativeness of these reports and accounts for the infrequency and disappointing results of pathogenetic and genetic research. Our study concerned an exceptional HCP genealogy which would seem to provide an ideal model for the detection of a genetic anomaly linked to the expression of the disease. We studied 249 members of a family (214 still alive), covering eight generations born between 1800 and 1993. According to the customary criteria, 63 had definite and 17 probable HCP. Fifty-eight members under 18 years of age were still susceptible to developing the disease. This series confirms the mode of autosomal dominant heredity with variable penetrance. The clinical features and disease course were typical, except that symptoms tended to appear earlier. The series represents the most extensive HCP genealogy compiled and is one of the largest families studied in the field of genetic disease, regardless of etiology. Blood samples were taken from 146 subjects to facilitate pathogenetic and genetic research.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Comfort MW, Steinberg AG: Pedigree of a family with hereditary relapsing pancreatitis. Gastroenterology 21:54–64, 1952
Freud E, Barak R, Ziv N, Leiser A, Dinari G, Mor C, Zer M: Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature. Arch Surg 127:1125–1128, 1992
Gross JB: Hereditary pancreatitis.In The Exocrine Pancreas, Biology, Pathobiology and Diseases. VLW Go et al (eds). New York, Raven Press, 1986, pp 829–839
Dalton-Clarke HJ, Lewis MH, Levi AJ, Blumgart LH: Familial chronic calcific pancreatitis: A family study. Br J Surg 72:307–308, 1985
Chevallier B, Cavelier B, Martin JM, Rivat-Péran L, Signoret C, Colin R: Pancréatite chronique familiale: Étude génétique dans deux familles. Gastroenterol Clin Biol 8:596–597, 1982
Layer P, Balzer K, Goebell H: Hereditary pancreatitis. Presentation of an additional family. Hepato-Gastroenterol 32:31–33, 1985
Mahé JF: Les pancréatites chroniques familiales; recherche d'un linkage avec le système HLA et les groupes sanguins. Doctoral dissertation. University of Nantes, 1985
Nordback I, Saarenpää-Keikkilä O, Koskimies S: Screening a family for hereditary chronic pancreatitis. Panminerva Med 32:19–24, 1990
Sibert JR: Hereditary pancreatitis in England and Wales. J Med Genet 15:189–201, 1978
Cornet E, Hardy M, Dupont H, Gordeef A: Pancréatites chroniques familiales primitives avec ectasies canalaires. Rev Med Chir Mal Foie 37:1–22, 1963
Kattwinckel J, Lapey A, Di Sant'Agnese PA, Edwards WA, Hufty MP: Hereditary pancreatitis: Three new kindreds and a critical review of the literature. Pediatrics 51:55–69, 1973
Stafford RJ, Grand RJ: Hereditary disease of the exocrine pancreas. Clin Gastroenterol 11:141–169, 1982
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cell. Nucleic Acids Res 16:1215, 1988
Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vysseix G, Lathrop M: A second generation linkage map of the human genome. Nature 359:794–801, 1992
Ott J: Analysis of Human Genetic Linkage. Baltimore, John Hopkins University Press, 1991, pp 302
Shepherd JJ: The natural history of multiple endocrine neoplasia type 1. Arch Surg 126:935–952, 1991
Sarles H: Epidemiology and physiopathology of chronic pancreatitis and the role of the pancreatic stone proteine. Clin Gastroenterol 13:895–912, 1984
Le Bodic L, Bignon JD, Raguenes O, Mercier B, Georgelin T, Schnee M, Soulard F, Gagne K, Bonneville F, Muller JY, Bachner L, Ferec C. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet 5:549–554, 1996
Author information
Authors and Affiliations
Additional information
Supported by Association Francaise de Lutte contre la Myopathie, Société Nationale Francaise de Gastro-Entérologie, and Délégation à la Recherche Clinique CHU de Nantes.
Rights and permissions
About this article
Cite this article
Le Bodic, L., Schnee, M., Georgelin, T. et al. An exceptional genealogy for hereditary chronic pancreatitis. Digest Dis Sci 41, 1504–1510 (1996). https://doi.org/10.1007/BF02088580
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02088580